PID-NET - Network for primary immundeficiency disorders
Primary immunodeficiency disorders (PID) represent rare inborn errors of the immune system predisposing to recurrent infections, autoimmunity, allergy, and cancer. Identifying underlying genetic causes and the pathophysiological basis of these rare diseases is not only important for the development of innovative gene-based therapeutic strategies, but has wide implications for understanding many of the more common immunological disorders.
Members of the interdisciplinary PID-NET consortium will work together to define the molecular etiology of inborn disorders of the innate and adaptive immune system. PID-NET will focus on disease entities where autoimmunity and autoinflammationcontribute to the clinical presentation. For these defined syndromes, resources for functional immunological tests and for rapid genetic sequencing will be provided, allowing a better definition of genotype-phenotype correlations. For patients with undefined genetic defects, careful clinical and immunological phenotyping will facilitate to characterize novel human genes by various methods. A national registry and a biomaterial bank will be be key elements of this collaboratory effort. Furthermore, PID-NET scientists will coordinate a national platform to develop innovative gene-based therapies for patients with defined primary immunodeficiency disorders.
In summary, PID-NET will play a substantial role in coordinating primary immunodeficiency research in Germany and thus will help to improve diagnosis and therapy of patients with rare inherited immunodeficiency syndromes.
Projects- Genetics of human (severe) combined immunodeficiency (SCID) (Prof. K. Schwarz, Dr. M. Hönig, Ulm)
- Genetic and immunological variability in patients with lymphoproliferation and autoimmunity (ALPS) (Dr. C. Speckmann, Prof. S. Ehl, Dr. A. Rensing-Ehl, Freiburg)
- Phenotypic characterization of mutated procaspase-1 variants in autoinflammation (Prof. A. Rösen-Wolff, Prof. J. Roesler, Dr. S. Winkler, Dresden)
- Primary immunodeficiencies predisposing to severe bacterial infections (Prof. H. von Bernuth, Berlin)
- Reprogramming platform and induced pluripotent disease models for the development of novel therapeutics for PID (Prof. A. Schambach, Hannover)
- Development of stem cell gene therapies for patients with PID and colitis (Prof. C. Klein, Dr. D. Kotlarz, München)
- German National Registry for Primary Immunodeficiencies (PID) (Prof. B. Grimbacher, Dr. G. Kindle, BCompSc B. Gathmann, Freiburg)
Prof. Dr. C. Klein
Children’s Hospital
Dr. von Haunersches Kinderspital
Hospital of the Ludwig-Maximilians-University (LMU)
Lindwurmstrasse 4
80337 München
Phone: 089-4400 57701
Coordinating office:
Dr. R. Steck
Phone: 089-4400 57977
E-mail: regina.steck@med.uni-muenchen.de
Website: www.pid-net.org
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19. July 2019 (PID-Net)
The German National Registry of Primary Immunodeficiencies (2012-2017)Front. Immunol., 19 July 2019 | https://doi.org/10.3389/fimmu.2019.01272
Sabine M. El-Helou, Anika-Kerstin Biegner, Sebastian Bode, Stephan R. Ehl, Maximilian Heeg, Maria E. Maccari, Henrike Ritterbusch, Carsten Speckmann, Stephan Rusch, Raphael Scheible, Klaus Warnatz, Faranaz Atschekzei, Renata Beider, Diana Ernst, Stev Gerschmann , Alexandra Jablonka, Gudrun Mielke, Reinhold E. Schmidt, Gesine Schürmann, Georgios Sogkas, Ulrich H. Baumann, Christian Klemann, Dorothee Viemann, Horst von Bernuth, Renate Krüger, Leif G. Hanitsch, Carmen M. Scheibenbogen, Kirsten Wittke, Michael H. Albert, Anna Eichinger, Fabian Hauck, Christoph Klein, Anita Rack-Hoch, Franz M. Sollinger, Anne Avila, Michael Borte, Stephan Borte, Maria Fasshauer, Anja Hauenherm, Nils Kellner, Anna H. Müller, Anett Ülzen, Peter Bader, Shahrzad Bakhtiar, Jae-Yun Lee, Ursula Heß, Ralf Schubert, Sandra Wölke, Stefan Zielen, Sujal Ghosh, Hans-Juergen Laws , Jennifer Neubert, Prasad T. Oommen, Manfred Hönig, Ansgar Schulz, Sandra Steinmann, Klaus Schwarz, Gregor Dückers, Beate Lamers, Vanessa Langemeyer, Tim Niehues, Sonu Shai, Dagmar Graf, Carmen Müglich, Marc T. Schmalzing, Eva C. Schwaneck, Hans-Peter Tony, Johannes Dirks, Gabriele Haase, Johannes G. Liese, Henner Morbach, Dirk Foell, Antje Hellige, Helmut Wittkowski, Katja Masjosthusmann, Michael Moh, Linda Geberzahn, Christian M. Hedrich, Christiane Müller, Angela Rösen-Wolff, Joachim Roesler, Antje Zimmermann, Uta Behrends, Nikolaus Rieber, Uwe Schauer, Rupert Handgretinger, Ursula Holzer, Jörg Henes, Lothar Kanz, Christoph Boesecke, Jürgen K. Rockstroh, Carolynne Schwarze-Zander, Jan-Christian Wasmuth, Dagmar Dilloo, Brigitte Hülsmann, Stefan Schönberger, Stefan Schreiber, Rainald Zeuner, Tobias Ankermann, Philipp von Bismarck, Hans-Iko Huppertz, Petra Kaiser-Labusch, Johann Greil, Donate Jakoby, Andreas E. Kulozik, Markus Metzler, Nora Naumann-Bartsch, Bettina Sobik, Norbert Graf, Sabine Heine, Robin Kobbe Kai Lehmberg, Ingo Müller, Friedrich Herrmann, Gerd Horneff, Ariane Klein, Joachim Peitz, Nadine Schmidt, Stefan Bielack , Ute Groß-Wieltsch, Carl F. Classen, Jessica Klasen, Peter Deutz, Dirk Kamitz, Lisa Lassay, Klaus Tenbrock, Norbert Wagner, Benedikt Bernbeck, Bastian Brummel, Eusebia Lara-Villacanas, Esther Münstermann, Dominik T. Schneider, Nadine Tietsch, Marco Westkemper, Michael Weiß, Christof Kramm, Ingrid Kühnle, Silke Kullmann, Hermann Girschick, Christof Specker, Elisabeth Vinnemeier-Laubenthal, Henriette Haenicke, Claudia Schulz, Lothar Schweigerer, Thomas G. Müller, Martina Stiefel, Bernd H. Belohradsky, Veronika Soetedjo, Gerhard Kindle and Bodo Grimbacher
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22. May 2019 (PID-Net)
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel DiseaseMagg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D.
Inflamm Bowel Dis. 2019 May 22. pii: izz103. doi: 10.1093/ibd/izz103. [Epub ahead of print]
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30. April 2019 (PID-Net)
Preclinical Assessment of Suitable Natural Killer Cell Sources for Chimeric Antigen Receptor Natural Killer-Based “Off-the-Shelf” Acute Myeloid Leukemia ImmunotherapiesHum Gene Ther. 2019 Apr;30(4):381-401. doi: 10.1089/hum.2018.247. Epub 2019 Mar 18
Kloess S, Oberschmidt O, Dahlke J, Vu XK, Neudoerfl C, Kloos A, Gardlowski T, Matthies N, Heuser M, Meyer J, Sauer M, Falk C, Koehl U, Schambach A, Morgan MA.
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21. March 2019 (PID-Net)
Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like DeficiencyJ Clin Immunol. 2019 Feb;39(2):207-215. doi: 10.1007/s10875-019-00606-7. Epub 2019 Mar 21. PMID: 30903457
Illig D, Navratil M, Kelečić J, Conca R, Hojsak I, Jadrešin O, Ćorić M, Vuković J, Rohlfs M, Hollizeck S, Bohne J, Klein C, Kotlarz D.
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15. January 2019 (PID-Net)
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseasesProc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116.
Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D.
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26. December 2018 (PID-Net)
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiencyEur J Hum Genet. 2018 Dec;26(12):1773-1783. doi: 10.1038/s41431-018-0220-5. Epub 2018 Aug 8
van Diepen L, Buettner FFR, Hoffmann D, Thiesler CT, von Bohlen Und Halbach O, von Bohlen und Halbach V, Jensen LR, Steinemann D, Edvardson S, Elpeleg O, Schambach A, Gerardy-Schahn R, Kuss AW.
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29. October 2018 (PID-Net)
Engineering CAR-T Cells for Improved Function Against Solid TumorsFront Immunol. 2018 Oct 29;9:2493. doi: 10.3389/fimmu.2018.02493. eCollection 2018. Review
Morgan MA, Schambach A.
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29. October 2018 (PID-Net)
Chimeric Antigen Receptor T Cells: Extending Translation from Liquid to Solid TumorsHum Gene Ther. 2018 Oct;29(10):1083-1097. doi: 10.1089/hum.2017.251. Epub 2018 Aug 29
Morgan MA, Schambach A.
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26. September 2018 (PID-Net)
Intestinal Inflammation and Dysregulated Immunity in Patients with Inherited Caspase-8 DeficiencyAnna S. Lehle, Henner F. Farin, Benjamin Marquardt, Birgitta E. Michels, Thomas Magg, Yue Li, Yanshan Liu, Maryam Ghalandary, Katja Lammens, Sebastian Hollizeck, Meino Rohlfs, Fabian Hauck, Raffaele Conca, Christoph Walz, Batia Weiss, Atar Lev, Amos J. Simon, Olaf Groß, Moritz M. Gaidt, Veit Hornung, Hans Clevers, Nadine Yazbeck, Rima Hanna-Wakim, Dror S. Shouval, Neil Warner, Raz Somech, Aleixo M. Muise, Scott S. Snapper, Philip Bufler, Sibylle Koletzko, Christoph Klein, Daniel Kotlarz
Gastroenterology. 2018 Sep 26. doi: 10.1053/j.gastro.2018.09.041. [Epub ahead of print]
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23. April 2018 (PID-Net)
Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) DeficiencyFront Immunol. 2018 Apr 23;9:720. doi: 10.3389/fimmu.2018.00720. eCollection 2018.
Gámez-Díaz L, Sigmund EC, Reiser V, Vach W, Jung S, Grimbacher B.
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27. February 2018 (PID-Net)
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathyNature Genetics 2018, published online 26 Februar 2018
Daniel Kotlarz, Benjamin Marquardt, Tuva Barøy, Way S. Lee, Liza Konnikova, Sebastian Hollizeck, Thomas Magg, Anna S. Lehle, Christoph Walz, Ingo Borggraefe, Fabian Hauck, Philip Bufler, Raffaele Conca, Sarah M. Wall, Eva M. Schumacher, Doriana Misceo, Eirik Frengen, Beint S. Bentsen, Holm H. Uhlig, Karl-Peter Hopfner, Aleixo M. Muise, Scott B. Snapper, Petter Strømme & Christoph Klein
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15. November 2017 (PID-Net)
Uncoupling the Oncogenic EngineCancer Res. 2017 Nov 15;77(22):6060-6064. doi: 10.1158/0008-5472.CAN-17-2362. Epub 2017 Nov 2
Schambach A, Schott JW, Morgan MA.
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31. October 2017 (PID-Net)
Integrating Vectors for Gene Therapy and Clonal Tracking of Engineered HematopoiesisHematol Oncol Clin North Am. 2017 Oct;31(5):737-752. doi: 10.1016/j.hoc.2017.06.009.
Biasco L, Rothe M, Schott JW, Schambach A.
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21. October 2017 (PID-Net)
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrationsJ Allergy Clin Immunol. 2017 Oct;140(4):1112-1119. doi: 10.1016/j.jaci.2016.10.053.
Bahrami E, Witzel M, Racek T, Puchałka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Göhring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C.
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20. October 2017 (PID-Net)
Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBDInflamm Bowel Dis. 2017 Nov;23(11):1950-1961. doi: 10.1097/MIB.0000000000001270.
Shouval DS, Konnikova L, Griffith AE, Wall SM, Biswas A, Werner L, Nunberg M, Kammermeier J, Goettel JA, Anand R, Chen H, Weiss B, Li J, Loizides A, Yerushalmi B, Yanagi T, Beier R, Conklin LS, Ebens CL, Santos FGMS, Sherlock M, Goldsmith JD, Kotlarz D, Glover SC, Shah N, Bousvaros A, Uhlig HH, Muise AM, Klein C, Snapper SB
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20. October 2017 (PID-Net)
MYSM1 deficiency- genotoxic stress-associated bone marrow failure and developmental aberrationsJ Allergy Clin Immunol. 2017 Oct;140(4):1112-1119. doi: 10.1016/j.jaci.2016.10.053.
Bahrami E, Witzel M, Racek T, Puchałka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Göhring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C.
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5. October 2017 (PID-Net)
Analyzing the Genotoxicity of Retroviral Vectors in Hematopoietic Cell Gene TherapyMol Ther Methods Clin Dev. 2017 Oct 5;8:21-30. doi: 10.1016/j.omtm.2017.10.002. eCollection 2018 Mar 16. Review
Biasco L, Rothe M, Büning H, Schambach A.
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5. October 2017 (PID-Net)
Analyzing the Genotoxicity of Retroviral Vectors in Hematopoietic Cell Gene TherapyMol Ther Methods Clin Dev. 2017 Oct 5;8:21-30. doi: 10.1016/j.omtm.2017.10.002. eCollection 2018 Mar 16. Review
Biasco L, Rothe M, Büning H, Schambach A.
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21. July 2017 (PID-Net)
Multimodal Lentiviral Vectors for Pharmacologically Controlled Switching Between Constitutive Single Gene Expression and Tetracycline-Regulated Multiple Gene Collaboration.Hum Gene Ther Methods. 2017 Aug;28(4):191-204. doi: 10.1089/hgtb.2017.073. Epub 2017 Jul 5.
Stahlhut M, Schambach A, Kustikova OS.
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21. July 2017 (PID-Net)
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.J Exp Med. 2016 Jul 25;213(8):1589-608. doi: 10.1084/jem.20151467. Epub 2016 Jul 11.
Ma CS, Wong N, Rao G Nguyen A Avery DT, Payne K, Torpy J, O’Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG.
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27. June 2017 (PID-Net)
Immunological phenotype of the murine Lrba knockoutImmunol Cell Biol. 2017 Jun 27. doi: 10.1038/icb.2017.52
Gámez-Díaz L, Neumann J, Jäger F, Proietti M, Felber F, Soulas-Sprauel P, Perruzza L, Grassi F, Kögl T, Aichele P, Kilimann M, Grimbacher B, Jung S.
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31. May 2017 (PID-Net)
Potent and reversible lentiviral vector restriction in murine induced pluripotent stem cellsRetrovirology. 2017 May 31;14(1):34. doi: 10.1186/s12977-017-0358-1.
Geis FK, Galla M, Hoffmann D, Kuehle J, Zychlinski D, Maetzig T, Schott JW, Schwarzer A, Goffinet C, Goff SP, Schambach A.
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25. May 2017 (PID-Net)
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytesNat Genet. 2017 May;49(5):742-752. doi: 10.1038/ng.3833.
Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchałka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schäffer AA, Klein C.
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1. May 2017 (PID-Net)
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017.
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW.
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24. April 2017 (PID-Net)
Detailed comparison of retroviral vectors and promoter configurations for stable and high transgene expression in human induced pluripotent stem cells.Gene Ther. 2017 May;24(5):298-307. doi: 10.1038/gt.2017.20. Epub 2017 Apr 20.
Hoffmann D, Schott JW, Geis FK, Lange L, Muller FJ, Lenz D, Zychlinski D, Steinemann D, Morgan M, Moritz T, Schambach A.
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16. February 2017 (PID-Net)
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.
Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ
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10. February 2017 (PID-Net)
Kostmann’s Disease and HCLS1-Associated Protein X-1 (HAX1)J Clin Immunol. 2017 Feb;37(2):117-122. doi: 10.1007/s10875-016-0358-2.
Klein C.
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23. January 2017 (PID-Net)
A human immunodeficiency syndrome caused by mutations in CARMIL2Nat Commun. 2017 Jan 23;8:14209
T. Schober, T. Magg, M. Laschinger, M. Rohlfs, N. D. Linhares, J. Puchalka, T. Weisser, K. Fehlner, J. Mautner, C. Walz, K. Hussein, G. Jaeger, B. Kammer, I. Schmid, M. Bahia, S. D. Pena, U. Behrends, B. H. Belohradsky, C. Klein & F. Hauck -
14. December 2016 (MD-NetPID-Net)
Gene Insertion Into Genomic Safe Harbors for Human Gene TherapyMol Ther. 2016 Dec 14;24(4):678-84. doi: 10.1038/mt.2016.38. Review.
Papapetrou EP, Schambach A. -
28. September 2016 (MD-NetPID-Net)
XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.BMJ Case Rep. 2016 Sep 28;2016. pii: bcr2016216922. doi: 10.1136/bcr-2016-216922
Christiansen M, Ammann S, Speckmann C, Mogensen TH -
1. September 2016 (PID-Net)
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literaturePediatr Allergy Immunol. 2016 Sep;27(6):640-4
Olbrich P, Lorenz M, Cura Daball P, Lucena JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon M, Schwarz K, Neth O, Speckmann C -
14. July 2016 (PID-Net)
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndromeBlood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20.
Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A. -
5. July 2016 (PID-Net)
Viral and synthetic RNA vector technologies and applicationsMol Ther. 2016 Jul 5. doi: 10.1038/mt.2016.143. [Epub ahead of print]
Wilhelmine Schott J, Morgan M, Galla M, Schambach A.
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5. May 2016 (PID-Net)
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndromeBlood. 2016 May 5;127(18):2193-202. doi: 10.1182/blood-2015-04-642488. Epub 2016 Feb 23
Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M -
26. April 2016 (PID-Net)
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation and review of the literaturePediatr Allergy Immunol. 2016 Apr 26. doi: 10.1111/pai.12585. [Epub ahead of print]
Olbrich P, Lorenz M, Cura Daball P, Lucenas JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon M, Schwarz K, Neth O, Speckmann C.
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26. April 2016 (PID-Net)
Alpharetroviral self-inactivating vectors produced by a superinfection-resistant stable packaging cell line allow genetic modification of primary human T lymphocytesBiomaterials. 2016 Aug;97:97-109. doi: 10.1016/j.biomaterials.2016.04.019. Epub 2016 Apr 26.
Labenski V, Suerth JD, Barczak E, Heckl D, Levy C, Bernadin O, Charpentier E, Williams DA, Fehse B, Verhoeyen E, Schambach A.
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24. April 2016 (PID-Net)
Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCsMol Ther 2015;24(4): 812-22.
Laugsch M, Rostovskaya M, Velychko S, Richter C, Zimmer A, Klink B, Schröck E, Haase M, Neumann K, Thieme S, Roesler J, Brenner S, Anastassiadis K.
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14. April 2016 (PID-Net)
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndromeBlood. 2016 Apr 20. pii: blood-2015-11-685024. [Epub ahead of print]
Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A.
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12. April 2016 (PID-Net)
Gene Insertion Into Genomic Safe Harbors for Human Gene Therapy.Mol Ther. 2016 Apr 12;24(4):678-84. doi: 10.1038/mt.2016.38. Epub 2016 Feb 12.
Papapetrou EP, Schambach A
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1. April 2016 (PID-Net)
Caspase-1 regulates autoinflammation in rheumatic diseasesZ Rheumatol. 2016; 75(3):265-75.
Winkler S, Hedrich CM, Rösen-Wolff A.
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1. March 2016 (PID-Net)
Letter to the Editor: Production of Mature Healthy Hematopoietic Cells from Induced Pluripotent Stem Cells Derived from an AML Diagnostic Sample Containing the t(8;21) TranslocationStem Cells. 2016 Mar;34(3):797-9. doi: 10.1002/stem.2207.
Hoffmann D, Göhring G, Heuser M, Ganser A, Schambach A, Morgan MA.
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23. February 2016 (PID-Net)
Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndromeBlood. 2016 Feb 23. pii: blood-2015-04-642488. [Epub ahead of print]
Ales Janda, Klaus Schwarz, Mirjam van der Burg, Werner Vach, Hanna Ijspeert, Myriam Ricarda
Lorenz, Magdeldin Elgizouli, Kathrin Pieper, Paul Fisch, Joachim Hagel, Raquel Lorenzetti, Maximilian Seidl, Joachim Roesler, Fabian Hauck, Elisabetta Traggiai, Carsten Speckmann, Anne Rensing-Ehl, Stephan Ehl, Hermann Eibel, Marta Rizzi -
1. January 2016 (PID-Net)
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiencyJ Allergy Clin Immunol. 2016 Jan;137(1):223-30. doi: 10.1016/j.jaci.2015.09.025
Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJ, Blessing
J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S,
Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B. -
1. January 2016 (PID-Net)
Efficient generation of gene-modified human natural killer cells via alpharetroviral vectorsJ Mol Med (Berl). 2016 Jan;94(1):83-93. doi: 10.1007/s00109-015-1327-6. Epub 2015 Aug 25.
Suerth JD, Morgan MA, Kloess S, Heckl D, Neudörfl C, Falk CS, Koehl U, Schambach A.
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1. January 2016 (PID-Net)
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiencyJ Allergy Clin Immunol. 2016 Jan;137(1):223-30. doi: 10.1016/j.jaci.2015.09.025
Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B -
24. December 2015 (PID-Net)
Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosisBlood. 2015;126(26): 2842-51.
Harbort CJ, Soeiro-Pereira PV, von Bernuth H, Kaindl AM, Costa-Carvalho BT, Condino-Neto A, Reichenbach J, Roesler J, Zychlinsky A, Amulic B.
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20. December 2015 (PID-Net)
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiencyHum Mol Genet. 24, 7361-7372, 2015.
Volk, T., Pannicke, U., Reisli, I., Bulashevska, A., Ritter, J., Björkman, A., Schäffer, A.A., Fliegauf, M., Sayar, E.H., Salzer, U., Fisch, P., Pfeifer, D., Di Virgilio, M., Cao, H., Yang, F., Zimmermann, K., Keles, S., Caliskaner, Z,, Güner, S.Ü., Schindler, D., Hammarström, .L, Rizzi, M., Hummel, M., Pan-Hammarström, Q., Schwarz, K. und Grimbacher, B. -
1. December 2015 (PID-Net)
SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signalingClin Immunol. 161, 103-109, 2015.
Hauck, F., Blumenthal, B., Fuchs, S., Lenoir, C., Martin, E., Speckmann, C., Vraetz, T., Mannhardt-Laakmann, W., Lambert, N., Gil, M., Borte, S., Audrain, M., Schwarz, K., Lim, A., Schamel, W.W., Fischer, A., Ehl, S., Rensing-Ehl, A., Picard, C. und Latour, S. -
1. November 2015 (PID-Net)
TALEN-mediated functional correction of X-linked chronic granulomatous disease in patient-derived induced pluripotent stem cellsBiomaterials. 2015 Nov;69:191-200. doi: 10.1016/j.biomaterials.2015.07.057.
Dreyer AK, Hoffmann D, Lachmann N, Ackermann M, Steinemann D, Timm B, Siler U, Reichenbach J, Grez M, Moritz T, Schambach A, Cathomen T.
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24. October 2015 (PID-Net)
Retrovirus-based vectors for transient and permanent cell modificationCurr Opin Pharmacol. 2015 Oct;24:135-46. doi: 10.1016/j.coph.2015.09.004. Epub 2015 Oct 1.
Schott JW, Hoffmann D, Schambach A.
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15. October 2015 (PID-Net)
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndromeBlood. 2015 Oct 15;126(16):1967-9. doi: 10.1182/blood-2015-06-654145
Rensing-Ehl A, Pannicke U, Zimmermann SY, Lorenz MR, Neven B, Fuchs I, Salzer U, Speckmann C, Strauss A, Maaß E, Collet B, Enders A, Favier R, Alessi MC, Rieux-Laucat F, Zieger B, Schwarz K, Ehl S
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6. October 2015 (PID-Net)
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiencyClin Exp Immunol. 2015 Oct 6. doi: 10.1111/cei.12706. [Epub ahead of print]
Elgizouli M*, Lowe DM*, Speckmann C*, Schubert D, Hülsdünker J, Eskandarian Z, Dudek A, Schmitt-Graeff A, Wanders J, Jørgensen SF, Fevang B, Salzer U, Nieters A, Burns S, Grimbacher B. *equal contribution
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1. October 2015 (PID-Net)
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiencyBlood 126, 1658-1669, 2015.
Fuchs, S.*, Rensing-Ehl, A.*, Pannicke, U.*, Lorenz, M.R., Fisch, P., Jeelall, Y., Rohr, J., Speckmann, C., Vraetz, T., Farmand, S., Schmitt-Graeff, A., Krüger, M., Strahm, B., Henneke, P., Enders, A., Horikawa, K., Goodnow, C., Schwarz, K+. und Ehl,S+.
* bzw. + equal contribution. -
1. August 2015 (PID-Net)
β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune systemJ Allergy Clin Immunol.136, 392-401, 2015.
Ardeniz, Ö., Unger, S., Onay, H., Ammann, S., Keck, C., Cianga, C., Gerçeker, B., Martin, B., Fuchs, I., Salzer, U., İkincioğulları, A., Güloğlu, D., Dereli, T., Thimme, R., Ehl, S., Schwarz, K., Schmitt-Graeff, A., Cianga, P., Fisch, P.und Warnatz, K. -
1. July 2015 (PID-Net)
Caspase-1: An integral regulator of innate immunitySemin Immunopathol. 2015 Jul;37(4):419-27. doi: 10.1007/s00281-015-0494-4. Epub 2015 Jun 10.
Winkler S and Rösen-Wolff A.
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1. July 2015 (PID-Net)
Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory diseaseCurr Rheumatol Rep 17(7): 520-527
Luksch H, Winkler S, Heymann MC, Schulze F, Hofmann SR, Roesler J, and Rösen-Wolff A (2015)
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1. July 2015 (PID-Net)
Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiencyJ Clin Immunol. 2015 Jul;35(5):439-44. doi: 10.1007/s10875-015-0166-0. Epub 2015 May 6.
Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, Elawad M, Fiil BK, Gyrd-Hansen M, Salzer U, Speckmann *, Grimbacher B*.
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1. July 2015 (PID-Net)
Mechanisms of clonal evolution in childhood acute lymphoblastic leukemiaNat Immunol. 16, 766-774, 2015.
Swaminathan, S., Klemm, L., Park, E., Papaemmanuil, E., Ford, A., Kweon, S.M., Trageser, D., Hasselfeld, B., Henke, N., Mooster, J., Geng, H., Schwarz, K., Kogan, S.C., Casellas, R., Schatz D,G., Lieber, M.R., Greaves, M.F. und Müschen, M. -
1. June 2015 (MD-NetPID-Net)
Septic arthritis or juvenile idiopathic arthritis – the case of a 2 year old boyPediatr Allergy Immunol. 26, 389-391, 2015.
Kallinich, T., Kölsch, U., Lieber, M., Unterwalder, N., Spors, B., Lorenz, M., Schwarz, K., Meisel, C. und von Bernuth, H. -
27. May 2015 (PID-Net)
Fluorescent tags influence the enzymatic activity and subcellular localization of procaspase-1Clin Immunol. 2015 May 27. pii: S1521-6616(15)00173-4. doi: 10.1016/j.clim.2015.05.011. [Epub ahead of print]
Heymann MC, Rabe S, Ruß S, Kapplusch F, Schulze F, Stein R, Winkler S, Hedrich CM, Rösen-Wolff A, Hofmann SR (2015)
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15. May 2015 (PID-Net)
Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage functionImmunity 2014 May 15;40(5):706-19. Epub 2014 May 1
Shouval DS, Biswas A, Goettel JA, McCann K, Conaway E, Redhu NS, et al. -
15. April 2015 (PID-Net)
CD4+ T Cell-Derived IL-21 and Deprivation of CD40 Signaling Favor the In Vivo Development of Granzyme B-Expressing Regulatory B Cells in HIV PatientsJ Immunol. 194, 3768-3777, 2015.
Kaltenmeier, C., Gawanbacht, A., Beyer, T., Lindner, S., Trzaska, T., van der Merwe, J.A., Härter, G., Grüner, B., Fabricius, D., Lotfi, R., Schwarz, K., Schütz, C., Hönig, M,. Schulz, A., Kern, P., Bommer, M., Schrezenmeier, H., Kirchhoff, F. und Jahrsdörfer, B. -
1. April 2015 (PID-Net)
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel diseaseGastroenterology 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, et al…
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1. April 2015 (PID-Net)
A Novel Thymoma-Associated Immunodeficiency with Increased Naive T Cells and Reduced CD247 ExpressionJ Immunol. 194, 3045-3053, 2015.
Christopoulos, P., Dopfer, E.P., Malkovsky, M., Esser, P.R., Schaefer, H.E., Marx, A., Kock, S., Rupp, N., Lorenz, M.R., Schwarz, K., Harder, J., Martin, S.F., Werner, M., Bogdan, C., Schamel, W.W. und Fisch, P. -
10. February 2015 (PID-Net)
Large-scale hematopoietic differentiation of human induced pluripotent stem cells provides granulocytes or macrophages for cell replacement therapiesStem Cell Reports. 2015 Feb 10;4(2):282-96. doi: 10.1016/j.stemcr.2015.01.005
Lachmann N, Ackermann M, Frenzel E, Liebhaber S, Brennig S, Happle C, Hoffmann D, Klimenkova O, Lüttge D, Buchegger T, Kühnel MP, Schambach A, Janciauskiene S, Figueiredo C, Hansen G, Skokowa J, Moritz T.
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8. February 2015 (PID-Net)
Spectrum and management of complement immunodeficiencies (excluding hereditary angioedema) across EuropeJ Clin Immunol. 2015;35(2): 199-205.
Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N, Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A, Baxendale H, Litzman J, Arkwright PD.
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1. February 2015 (PID-Net)
Infectious and immunologic phenotype of MECP2 duplication syndromeJ Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27.
Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.
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29. January 2015 (PID-Net)
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiencyBlood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20
Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brümmendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S.
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1. December 2014 (PID-Net)
The use of databases in primary immunodeficienciesCurr Opin Allergy Clin Immunol. 2014 Dec;14(6):501-8
Kindle G, Gathmann B, Grimbacher B
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20. November 2014 (PID-Net)
Early-onset Evans syndrome, immunodeficiency and premature immunosenescence associated with tripeptidyl-peptidase II deficiencyBlood Epub
Stepensky P, Rensing-Ehl A, Gather R, et al. -
21. October 2014 (PID-Net)
Combined immunodeficiency develops with age in immunodeficiency-centromeric instabillity facial anomalies syndrome (ICF2)Orphanet Journal of Rare Diseases 2014;9:113-118
von Bernuth H, Ravindran E, Du H, Fröhler S, Strehl K, Krämer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MX, Erich K, Kölsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM -
7. August 2014 (PID-Net)
Improved retroviral episome transfer of transcription factors enables sustained cell fate modificationGene Ther. 2014 Nov;21(11):938-49. doi: 10.1038/gt.2014.69. Epub 2014 Aug 7.
Schott JW, Hoffmann D, Maetzig T, Müller FJ, Steinemann D, Zychlinski D, Cantz T, Baum C, Schambach A.
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7. August 2014 (PID-Net)
Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiencyBlood. 2014 Aug 7;124(6):851-60. doi: 10.1182/blood-2014-03-564286. Epub 2014 Jun 3
Rensing-Ehl A, Völkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgäuer A, Kentouche K, Cant A, Hambleton S, Bettoni da Cunha C, Huetker S, Kühnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S.
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1. July 2014 (PID-Net)
Liver abscess complicated by diaphragm perforation and pleuaral empyema leads to the discovery of Interleukin-1 receptor associated kinase-4 (IRAK-4) deficiencyPed Infect Dis J. 2014 Jul. (Epub ahead of print)
Schöndorf D, von Bernuth H, Simon A, Schneider G, Kölsch U, Schwarz K, Meier CM, Große-Onnebring J, Gortner L, Rohrer TR -
1. July 2014 (PID-Net)
Clinical picture and treatment of 2212 patients with common variable immunodeficiencyJ Allergy Clin Immunol. 2014 Jul;134(1):116-26
Gathmann B, Mahlaoui N; CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party
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22. June 2014 (PID-Net)
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiencyFront Immunol. 2014;5:162
Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al. -
12. June 2014 (PID-Net)
Inherited biallelic CSF3R mutations in severe congenital neutropenia2014 Jun 12; 123(24):3811-7. doi: 10.1182/blood-2013-11-535419. Epub 2014 Apr 21
Triot A, Järvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Díaz JL, et al.. -
1. June 2014 (PID-Net)
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiencyClin Exp Immunol. 2014 Jun;176(3):394-400. doi: 10.1111/cei.12306
Ammann S1, Elling R, Gyrd-Hansen M, Dückers G, Bredius R, Burns SO, Edgar JD, Worth A, Brandau H, Warnatz K, Zur Stadt U, Hasselblatt P, Schwarz K, Ehl S, Speckmann C.
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2. May 2014 (PID-Net)
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaNat Genet.
Boztug K, Järvinen P, Salzer E, Racek T, Mönch S, Garncarz W, et al. -
1. May 2014 (MD-NetPID-Net)
Successful Haploidentical Hematopoietic Stem Cell Transplantation in a Patient with SCID due to CD3epsilon Deficiency: Need for IgG-Substitution 6 Years LaterKlin Padiatr. 2014 May;226(3):149-53. Epub 2014 Feb 10.
Fuehrer M, Pannicke U, Schuetz C, Jacobsen EM, Schulz A, Friedrich W, et al. -
1. May 2014 (PID-Net)
Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signalingJ Immunol. 2014 May 1;192(9):4379-85
Heymann MC, Wnkler S, Luksch H, Flecks S, Franke M, Ruß S, Ozen S, Yilmaz E, Klein C, Kallinich T, Lindemann D, Brenner S, Ganser G, Roesler J, Rösen-Wolff A, Hofmann SR
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22. April 2014 (PID-Net)
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiencyFront Immunol. 2014;5:162.
Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, et al.
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1. April 2014 (PID-Net)
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel diseaseGastroenterology 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, et al… -
1. April 2014 (PID-Net)
Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be testedJ Allergy Clin Immunol 2014 Apr;133(4):1211-5. Epub 2013 Dec 10.
Schuetz C., Pannicke U., Jacobsen E.-M., Burggraf S., Albert M.H., Hönig M., Niehues T., Feyen O., Ehl S., Debatin K.-M., Friedrich W., Schulz A.S. and Schwarz, K. -
27. March 2014 (PID-Net)
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutationsBlood. 2014 Mar 27;123(13):1989-99. Epub 2014 Jan 7
Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, et al. -
12. March 2014 (PID-Net)
Gene Therapy for WiskottAldrich Syndrome—Long-Term Efficacy and Genotoxicity.Sci Transl Med. 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280.
Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Göhring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kühlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Maródi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C. -
12. March 2014 (PID-Net)
Gene Therapy for Wiskott Aldrich Syndrome – Long-Term Efficacy and GenotoxicitySci Transl Med. 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280
Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Göhring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kühlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Maródi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C.
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12. February 2014 (PID-Net)
Caspase-1 cleavage of the TLR adaptor TRIF inhibits autophagy and beta-interferon production during Pseudomonas aeruginosa infectionCell Host Microbe. 2014;Feb 12; 15(2):214-27
Jabir MS, Ritchie ND, Li D, Bayes HK, Tourlomousis P, Puleston D, Lupton A, Hopkins L, Simon AK, Bryant C, Evans TJ. -
10. February 2014 (PID-Net)
Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiencyKlin Padiatr. 2014 Feb 10. [Epub ahead of print] Fuehrer M., Pannicke U., Schuetz C., Schulz A., Friedrich W., Schwarz K. and Hoenig M.. (Contributors: Subproject A2).
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17. January 2014 (PID-Net)
Modified lentiviral LTRs allow Flp recombinase-mediated cassette exchange and in vivo tracing of “factor-free” induced pluripotent stem cells.Mol Ther. 2014 Jan 17.
Kuehle J, Turan S, Cantz T, Hoffmann D, Suerth JD, Maetzig T, Zychlinski D, Klein C, Steinemann D, Baum C, Bode J, Schambach A. -
17. January 2014 (PID-Net)
Modified lentiviral LTRs allow Flp recombinase-mediated cassette exchange and in vivo tracing of “factor-free” induced pluripotent stem cells.Mol Ther. 2014 Jan 17.
Kuehle J, Turan S, Cantz T, Hoffmann D, Suerth JD, Maetzig T, Zychlinski D, Klein C, Steinemann D, Baum C, Bode J, Schambach A.
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9. January 2014 (PID-Net)
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCIDBlood 2014 Jan 9; 123(2):281-9. Epub 2013 Oct 21.
Schuetz C., Neven B., Dvorak C.C., Leroy S., Ege M.J., Pannicke U., Schwarz, K., Schulz A.S., Honig, M., Sparber-Sauer, M., Gatz S.A., Denzer C., Blanche S., Moshous D., Picard C., Horn B.N., de Villartay J.P., Cavazzana M., Debatin K.M., Friedrich W., Fischer A. and Cowan M.J. -
1. January 2014 (PID-Net)
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiencyNat Immunol. 2014 Jan;15(1):88-97. Epub 2013 Oct 28.
Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, et al.
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1. January 2014 (PID-Net)
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiencyNat Immunol. 2014 Jan;15(1):88-97. Epub 2013 Oct 28.
Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, et al. -
26. December 2013 (PID-Net)
Deficiency of Innate and Acquired Immunity Caused by an IKBKB MutationN Engl J Med. 2013 Dec 26;369(26):2504-14.
Pannicke, U., Baumann, B., Fuchs, S., Henneke, P.,Rensing-Ehl, A., Rizzi, M., Janda, A., Hese, K., Schlesier, M., Holzmann, K., Borte, S., Laux, C., Rump, E.-M., Rosenberg, A., Zelinski, T., Schrezenmeier, H., Wirth, T., Ehl, S., Schroeder, M.L. und Schwarz, K.
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26. December 2013 (PID-Net)
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndromeN Engl J Med. 2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S
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26. December 2013 (PID-Net)
Deficiency of Innate and Acquired Immunity Caused by an IKBKB MutationN Engl J Med 2013; 369:2504-2514December 26, 2013DOI: 10.1056/NEJMoa1309199
Ulrich Pannicke, Ph.D., Bernd Baumann, Ph.D., Sebastian Fuchs, M.Sc., Philipp Henneke, M.D., Anne Rensing-Ehl, M.D., Marta Rizzi, M.D., Ph.D., Ales Janda, M.D., Ph.D., Katrin Hese, Ph.D., Michael Schlesier, Ph.D., Karlheinz Holzmann, Ph.D., Stephan Borte, M.D., Constanze Laux, Eva-Maria Rump, Alan Rosenberg, M.D., Teresa Zelinski, Ph.D., Hubert Schrezenmeier, M.D., Thomas Wirth, Ph.D., Stephan Ehl, M.D., Marlis L. Schroeder, M.D., and Klaus Schwarz, M.D.
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9. December 2013 (PID-Net)
Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.J Allergy Clin Immunol. 2013 Dec 9. pii: S0091-6749(13)01634-5
Schuetz, C., Pannicke, U., Jacobsen, E.-M., Burggraf, S., Albert, M.H., Hönig, M., Niehues, T., Feyen, O., Ehl, S., Debatin, K.-M., Friedrich, W., Schulz, A.S. und Schwarz, K.
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1. December 2013 (PID-Net)
Bromo- and extraterminal domain chromatin regulators serve as cofactors for murine leukemia virus integration.J Virol. 2013 Dec; 87(23):12721-36.
Gupta SS, Maetzig T, Maertens GN, Sharif A, Rothe M, Weidner-Glunde M, Galla M, Schambach A, Cherepanov P, Schulz TF.
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1. December 2013 (PID-Net)
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.Haematologica. 2013 Dec;98(12):1948-55
Rensing-Ehl, A., Janda, A., Lorenz, M.R., Gladstone, B.P., Fuchs, I., Abinun, M., Albert, M., Butler, K., Cant, A., Cseh, A.M., Ebinger, M., Goldacker, S., Hambleton, S., Hebart, H., Houet, L., Kentouche, K., Kühnle, I., Lehmberg, K., Mejstrikova, E., Niemeyer, C., Minkov, M., Neth, O., Dückers, G., Owens, S., Rösler, J., Schilling, F.H., Schuster, V., Seidel, M.G., Smisek, P., Sukova, M., Svec, P., Wiesel, T., Gathmann, B., Schwarz, K., Vach, W., Ehl, S. und Speckmann, C.
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26. November 2013 (PID-Net)
Gene Correction of Human Induced Pluripotent Stem Cells Repairs the Cellular Phenotype in Pulmonary Alveolar Proteinosis.Am J Respir Crit Care Med. 2013 Nov 26. [Epub ahead of print]
Lachmann N, Happle C, Ackermann M, Lüttge D, Wetzke M, Merkert S, Hetzel M, Kensah G, Jara-Avaca M, Mucci A, Skuljec J, Dittrich AM, Pfaff N, Brennig S, Schambach A, Steinemann D, Göhring G, Cantz T, Martin U, Schwerk N, Hansen G, Moritz T.
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26. November 2013 (PID-Net)
Promoter and lineage independent anti-silencing activity of the A2 ubiquitous chromatin opening element for optimized human pluripotent stem cell-based gene therapy.Biomaterials. 2013 Nov 26.
Ackermann M, Lachmann N, Hartung S, Eggenschwiler R, Pfaff N, Happle C, Mucci A, Göhring G, Niemann H, Hansen G, Schambach A, Cantz T, Zweigerdt R, Moritz T.
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6. November 2013 (PID-Net)
Biosafety Challenges for Use of Lentiviral Vectors in Gene Therapy.Curr Gene Ther. 2013 Nov 6. [Epub ahead of print]
Rothe M, Modlich U, Schambach A.
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1. November 2013 (PID-Net)
Clinical Phenotype and Functional Analysis of a Rare XIAP/BIRC4 Mutation.Klin Pädiatr. 2013 Nov; 225(6):343-6
Vieth, S., Ammann, S., Schwarz, K., Härtel, C., Schultz, C., Lehmberg, K. und Lauten, M.
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1. November 2013 (PID-Net)
Gene therapy on the move.EMBO Mol Med. 2013 Nov; 5(11):1642-61.
Kaufmann KB, Büning H, Galy A, Schambach A, Grez M.
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31. October 2013 (PID-Net)
High-resolution HLA matching in hematopoietic stem cell transplantation: a retrospective collaborative analysis.Blood. 2013 Oct 31;122(18):3220-9.
Fürst, D., Müller, C., Vucinic, V., Bunjes, D., Herr, W., Gramatzki, M., Schwerdtfeger, R., Arnold, R., Einsele, H., Wulf, G., Pfreundschuh, M., Glass, B., Schrezenmeier, H., Schwarz, K. und Mytilineos,. J.
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21. October 2013 (PID-Net)
SCID patients with ARTEMIS deficiency need myeloablation for full immune reconstitution following allogeneic HCT but have increased risk for late toxicity compared to patients with RAG deficient SCID.Blood. 2013 Oct 21. [Epub ahead of print]
Schuetz, C., Neven, B., Dvorak, C.C., Horn, B., Leroy, S., Ege, M., Pannicke, U., Schwarz, K., Schulz, A.S., Honig, M., Sparber-Sauer, M., Gatz, S.A., Denzer, C., Blanche, S., Moshous, D., Picard, C., de Villartay, J.P., Cavazzana-Calvo, M., Debatin, K.M., Friedrich, W., Fischer, A. und Cowan, M.J.
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3. October 2013 (PID-Net)
Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.Pediatr Blood Cancer 2013 Oct 3.
Braun; M., Wölfl, M., Wiegering, V., Winkler, B., Ertan, K., Bald, R., Schwarz, K. , Heimpel, H. , Eyrich, M. und Schlegel, P.G.
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1. October 2013 (PID-Net)
X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.Clin Immunol. 2013 Oct;149(1):133-41
Speckmann, C., Lehmberg, K., Albert, M.H., Damgaard, R.B., Fritsch, M., Gyrd-Hansen, M,.Rensing-Ehl, A., Vraetz, T., Grimbacher, B., Salzer, U., Fuchs, I., Ufheil, H., Belohradsky, B.H., Hassan, A., Cale, C.M., Elawad, M., Strahm, B., Schibli, S., Lauten, M., Kohl, M., Meerpohl, J.J., Rodeck, B., Kolb, R., Eberl, W., Soerensen, J., von Bernuth, H., Lorenz, M., Schwarz, K., Zur Stadt, U. und Ehl, S.
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1. September 2013 (PID-Net)
Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency.Pediatr Infect Dis J. 2013 Sep;32(9):1017-9.
Andres, O., Strehl, K., Kölsch, U., Kunzmann, S., Lebrun, A.H., Stroh, T., Schwarz, K., Morbach, H., von Bernuth, H. und Liese, J.
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1. August 2013 (PID-Net)
The German national registry for primary immunodeficiencies (PID).Clin Exp Immunol. 2013 Aug;173(2):372-80. doi: 10.1111/cei.12105.
Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, Ritterbusch H, Baumann U, Meyer-Bahlburg A, Witte T, Schmidt R, Borte M, Borte S, Linde R, Schubert R, Bienemann K, Laws HJ, Dueckers G, Roesler J, Rothoeft T, Krüger R, Scharbatke EC, Masjosthusmann K, Wasmuth JC, Moser O, Kaiser P, Groß-Wieltsch U, Classen CF, Horneff G, Reiser V, Binder N, El-Helou SM, Klein C, Grimbacher B, Kindle G.
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19. July 2013 (PID-Net)
Sequential decisions on FAS sequencing guided by biomarkersin patients with lymphoproliferation and autoimmune cytopenia.Haematologica. 2013 Jul 19. [Epub ahead of print]
Rensing-Ehl A, Janda A, Lorenz MR, Gladstone BP, Fuchs I, Abinun M, Albert M, Butler K, Cant AJ, Cseh AM, Ebinger M, Goldacker S, Hambleton S, Hebart H, Houet L, Kentouche K, Kühnle I, Lehmberg K, Mejstrikova E, Niemeyer C, Minkov M, Neth O, Dückers G, Owens S, Roesler J, Schilling FH, Schuster V, Seidel MG, Smisek P, Sukova M, Svec P, Wiesel T, Gathmann B, Schwarz K, Vach W, Ehl S, Speckmann C.
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15. July 2013 (PID-Net)
EBV-specific T-cell immunity in pediatric solid organ graft recipients with posttransplantation lymphoproliferative disease.Transplantation. 2013 Jan 15;95(1):247-55. doi: 10.1097/TP.0b013e318279968d.
Wilsdorf N, Eiz-Vesper B, Henke-Gendo C, Diestelhorst J, Oschlies I, Hussein K, Pape L, Baumann U, Tönshoff B, Pohl M, Höcker B, Wingen AM, Klapper W, Kreipe H, Schulz TF, Klein C, Maecker-Kolhoff B.
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9. July 2013 (PID-Net)
Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.Hum Mutat. 2013 Jan;34(1):122-31. doi: 10.1002/humu.22169. Epub 2012 Aug 10.
Luksch H, Romanowski MJ, Chara O, Tüngler V, Caffarena ER, Heymann MC, Lohse P, Aksentijevich I, Remmers EF, Flecks S, Quoos N, Gramatté J, Petzold C, Hofmann SR, Winkler S, Pessler F, Kallinich T, Ganser G, Nimtz-Talaska A, Baumann U, Runde V, Grimbacher B, Birmelin J, Gahr M, Roesler J, Rösen-Wolff A.
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4. July 2013 (PID-Net)
A congenital neutrophil defect syndrome associated with mutations in VPS45.N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5.
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R.
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1. July 2013 (PID-Net)
Therapeutic management of primary immunodeficiency in older patients.Drugs Aging. 2013 Jul;30(7):503-12. doi: 10.1007/s40266-013-0079-7.
Verma N, Thaventhiran A, Gathmann B; ESID Registry Working Party, Thaventhiran J, Grimbacher B.
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1. July 2013 (PID-Net)
Alu repeat-induced deletions in chronic granulomatous disease: a cause not only for p67-phox, but also for p47-phox deficiency.Ann Hematol. 2013 Jul;92(7):1003-4. doi: 10.1007/s00277-012-1661-5. Epub 2012 Dec 29.
Winkler S, van Leeuwen K, Deboer M, Rösen-Wolff A, Roos D, Roesler J.
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1. May 2013 (PID-Net)
Contribution of the inflammasomes to autoinflammatory diseases and recent mouse models as research tools.Clin Immunol. 2013 Jun;147(3):175-84. doi: 10.1016/j.clim.2013.01.006. Epub 2013 Feb 4.
Heymann MC, Rösen-Wolff A.
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15. April 2013 (PID-Net)
Outcomes of splenectomy in patients with common variable immunodeficiency (CVID): a survey of 45 patients.Clin Exp Immunol. 2013 Apr;172(1):63-72. doi: 10.1111/cei.12039.
Wong GK, Goldacker S, Winterhalter C, Grimbacher B, Chapel H, Lucas M, Alecsandru D, McEwen D, Quinti I, Martini H, Schmidt RE, Ernst D, Espanol T, Vidaller A, Carbone J, Fernandez-Cruz E, Lougaris V, Plebani A, Kutukculer N, Gonzalez-Granado LI, Contreras R, Kiani-Alikhan S, Ibrahim MA, Litzman J, Jones A, Gaspar HB, Hammarstrom L, Baumann U, Warnatz K, Huissoon AP; Clinical Working Party of the European Society for Immunodeficiencies (ESID).
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11. April 2013 (PID-Net)
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.
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11. April 2013 (PID-Net)
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.
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8. April 2013 (PID-Net)
Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation.Clin Immunol. 2013 Apr;147(1):61-8. doi: 10.1016/j.clim.2013.02.019. Epub 2013 Mar 5
Hauck F, Magerus-Chatinet A, Vicca S, Rensing-Ehl A, Roesen-Wolff A, Roesler J, Rieux-Laucat F.
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1. April 2013 (PID-Net)
Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency.J Clin Immunol. 2013 Apr;33(3):520-5. doi: 10.1007/s10875-012-9833-6. Epub 2012 Nov 20.
Begin P, Patey N, Mueller P, Rasquin A, Sirard A, Klein C, Haddad E, Drouin E, Le Deist F.
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11. March 2013 (PID-Net)
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25.
Kotlarz D, Zietara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchalka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C.
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1. March 2013 (PID-Net)
A ubiquitous chromatin opening element prevents transgene silencing in pluripotent stem cells and their differentiated progeny.Stem Cells. 2013 Mar;31(3):488-99.
Pfaff N, Lachmann N, Ackermann M, Kohlscheen S, Brendel C, Maetzig T, Niemann H, Antoniou MN, Grez M, Schambach A, Cantz T, Moritz T.
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15. February 2013 (PID-Net)
Risk factors and prognosis in T-cell posttransplantation lymphoproliferative diseases: reevaluation of 163 cases.Transplantation. 2013 Feb 15;95(3):479-88. doi: 10.1097/TP.0b013e3182762e07.
Tiede C, Maecker-Kolhoff B, Klein C, Kreipe H, Hussein K.
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2. February 2013 (PID-Net)
Biosafety features of lentiviral vectors.Hum Gene Ther. 2013 Feb;24(2):132-42. doi: 10.1089/hum.2012.229.
Schambach A, Zychlinski D, Ehrnstroem B, Baum C.
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1. February 2013 (PID-Net)
Small amyloidogenic HIV-1 gp120 fragments boost retro-and lentiviral gene transfer.Nat Nanotechnol. 2013 Feb;8(2):130-6.
Yolamanova, M., Arnold, F., Zirafi, O., Müller, J., Sauter, D., Goffinet, C., Reisser, M., Vas, V., Geiger, H., Lunov, O., Simmet, T., Bohne, J., Eisele, K., Meier, C., Weil, T., Schrezenmeier, H., Schwarz, K., Kirchhoff, F. und Münch, J.
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1. February 2013 (PID-Net)
Animal models of human granulocyte diseases.Hematol Oncol Clin North Am. 2013 Feb;27(1):129-48, ix. doi: 10.1016/j.hoc.2012.10.005. Epub 2012 Oct 31.
Schäffer AA, Klein C.
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1. February 2013 (PID-Net)
Preface. Neutropenia.Hematol Oncol Clin North Am. 2013 Feb;27(1):xi-xii. doi: 10.1016/j.hoc.2012.11.005. Epub 2012 Nov 27.
Klein C.
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1. February 2013 (PID-Net)
Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.Hematol Oncol Clin North Am. 2013 Feb;27(1):43-60, vii. doi: 10.1016/j.hoc.2012.11.004. Epub 2012 Nov 27.
Boztug K, Klein C.
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4. January 2013 (PID-Net)
Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.Hum Mutat. 2013 Jan;34(1):122-31. doi: 10.1002/humu.22169. Epub 2012 Aug 10.
Luksch H, Romanowski MJ, Chara O, Tüngler V, Caffarena ER, Heymann MC, Lohse P, Aksentijevich I, Remmers EF, Flecks S, Quoos N, Gramatté J, Petzold C, Hofmann SR, Winkler S, Pessler F, Kallinich T, Ganser G, Nimtz-Talaska A, Baumann U, Runde V, Grimbacher B, Birmelin J, Gahr M, Roesler J, Rösen-Wolff A.
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1. January 2013 (PID-Net)
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.Inflamm Bowel Dis. 2013 Jan;19(1):115-23. doi: 10.1002/ibd.22974.
Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM.
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1. January 2013 (PID-Net)
Characteristics of early and late PTLD development in pediatric solid organ transplant recipients.Transplantation. 2013 Jan 15;95(1):240-6. doi: 10.1097/TP.0b013e318277e344.
Schober T, Framke T, Kreipe H, Schulz TF, Großhennig A, Hussein K, Baumann U, Pape L, Schubert S, Wingen AM, Jack T, Koch A, Klein C, Maecker-Kolhoff B.
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17. October 2012 (PID-Net)
A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression.EMBO J. 2012 Oct 17;31(20):4035-44. doi: 10.1038/emboj.2012.252. Epub 2012 Sep 11.
Langemeier J, Schrom EM, Rabner A, Radtke M, Zychlinski D, Saborowski A, Bohn G, Mandel-Gutfreund Y, Bodem J, Klein C, Bohne J.
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1. October 2012 (PID-Net)
Attenuated TLR4/MAPK signaling in monocytes from patients with CRMO results in impaired IL-10 expression.Clin Immunol. 2012 Oct;145(1):69-76. doi: 10.1016/j.clim.2012.07.012. Epub 2012 Aug 4.
Hofmann SR, Morbach H, Schwarz T, Rösen-Wolff A, Girschick HJ, Hedrich CM.
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8. September 2012 (PID-Net)
Profiling of the human monocytic cell secretome by quantitative label-free mass spectrometry identifies stimulus-specific cytokines and proinflammatory proteins.Proteomics. 2012 Sep;12(18):2833-42. doi: 10.1002/pmic.201200108.
Groessl M, Luksch H, Rösen-Wolff A, Shevchenko A, Gentzel M.
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1. September 2012 (PID-Net)
“Mutation negative” Familial Cold Autoinflammatory Syndrome (FCAS) in an 8-year-old boy – Clinical course and functional studies.Rheumatol Internat 32: 2629-36.
Hedrich CM, Bruck N, Paul D, Hahn G, GahrM, Roesen-Wolff A
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1. September 2012 (PID-Net)
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving.Eur J Haematol. 2012 Sep;89(3):245-9. doi: 10.1111/j.1600-0609.2012.01827.x.
Wali Y, Beshlawi I, Fawaz N, Alkhayat A, Zalabany M, Elshinawy M, Al-Kindi S, Al-Rawas AH, Klein C.
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1. August 2012 (PID-Net)
Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy.Gastroenterology. 2012 Aug;143(2):347-55. doi: 10.1053/j.gastro.2012.04.045. Epub 2012 Apr 28.
Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister ED, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho KL, Sauerbrey A, Buderus S, Gungor T, Enninger A, Koda YK, Guariso G, Weiss B, Corbacioglu S, Socha P, Uslu N, Metin A, Wahbeh GT, Husain K, Ramadan D, Al-Herz W, Grimbacher B, Sauer M, Sykora KW, Koletzko S, Klein C.
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8. July 2012 (PID-Net)
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.The Journal of allergy and clinical immunology,2012
Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO.
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8. July 2012 (PID-Net)
Schwerer kombinierter Immundefekt.In: Klinische Immunologie. Eds.: H.-H. Peter, W.J. Pichler und U. Müller-Ladner Elsevier, 190-199, 2012.
Schwarz, K. und Hönig, M.
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1. July 2012 (PID-Net)
Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis.J Allergy Clin Immunol. 130, 991-994, 2012.
Speckmann, C., Neumann, C., Borte, S., La Marca, G., Sass, J.O., Wiech, E., Fisch, P., Schwarz, K., Buchholz, B., Schlesier, M., Felgentreff, K., Grimbacher, B., Santisteban, I., Bali, P., Hershfield, M.S. und Ehl, S.
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8. June 2012 (PID-Net)
Challenges in vector and trial design using retroviral vectors for long-term gene correction in hematopoietic stem cell gene therapy.Mol Ther. 2012 Jun;20(6):1084-94. doi: 10.1038/mt.2012.93. PubMed PMID: 22652996; PubMed Central
Corrigan-Curay J, Cohen-Haguenauer O, O’Reilly M, Ross SR, Fan H, Rosenberg N, Somia N, King N, Friedmann T, Dunbar C, Aiuti A, Naldini L, Baum C, von Kalle C, Kiem HP, Montini E, Bushman F, Sorrentino BP, Carrondo M, Malech H, Gahrton G, Shapiro R, Wolff L, Rosenthal E, Jambou R, Zaia J, Kohn DB.
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1. June 2012 (PID-Net)
CXCL13 as a Novel Marker for Diagnosis and Disease Monitoring in Pediatric PTLD.Am J Transplant. 2012 Jun;12(6):1610-7. doi: 10.1111/j.1600-6143.2011.03968.x. Epub 2012 Feb 15.
Schiffer L, Henke-Gendo C, Wilsdorf N, Hussein K, Pape L, Schmitt C, Haller H, Schiffer M, Klein C, Kreipe H, Maecker-Kolhoff B.
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8. May 2012 (PID-Net)
Alpharetroviral self-inactivating vectors: long-term transgene expression in murine hematopoietic cells and low genotoxicity.Mol Ther. 2012 May;20(5):1022-32. doi: 10.1038/mt.2011.309. Epub 2012 Feb 14.
Suerth JD, Maetzig T, Brugman MH, Heinz N, Appelt JU, Kaufmann KB, Schmidt M, Grez M, Modlich U, Baum C, Schambach A.
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1. May 2012 (PID-Net)
Induced transgene expression for the treatment of solid tumors by hematopoietic stem cell-based gene therapy.Cancer Gene Ther. 2012 May;19(5):352-7. doi: 10.1038/cgt.2012.8. Epub 2012 Mar 9.
Noyan F, Diez IA, Hapke M, Klein C, Dewey RA.
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12. April 2012 (PID-Net)
The phenotype of human STK4 deficiency.Blood. 2012;119(15):3450-7.
Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaeffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C.
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1. April 2012 (PID-Net)
Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia.J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Hung Chi T, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C.
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1. March 2012 (PID-Net)
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.Bone Marrow Transplant. 2012 Mar;47(3):352-9. doi: 10.1038/bmt.2011.99. Epub 2011 May 9.
Mynarek M, Tolar J, Albert MH, Escolar ML, Boelens JJ, Cowan MJ, Finnegan N, Glomstein A, Jacobsohn DA, Kuhl JS, Yabe H, Kurtzberg J, Malm D, Orchard PJ, Klein C, Lucke T, Sykora KW.
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1. February 2012 (PID-Net)
Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning.Bone Marrow Transplantation 47, 305–307, 2012.
Hönig, M., Schuetz, C., Schwarz, K., Rojewski, M., Jacobsen, E., Lahr, G., Debatin, K.M., Schulz, A. und Friedrich, W.
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1. February 2012 (PID-Net)
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.J Immunol. 188, 1523-1533, 2012.
Fuchs, S., Rensing-Ehl, A., Speckmann, C., Bengsch, B., Schmitt-Gräff, A., Maul-Pavicic, A., Vraetz, T., Strahm, B., Ankermann, T., Caliebe, A., Fölster-Holst, R., Kaiser, P., Thimme, R., Schwarz, K., Feske, S. und Ehl, S.
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1. December 2011 (PID-Net)
IL-10 and IL-10 receptor defects in humans.Year in Human and Medical Genetics: Inborn Errors of Immunity
Ann N Y Acad Sci. 2011 Dec;1246:102-7. doi: 10.1111/j.1749-6632.2011.06339.x.Glocker E-O, Kotlarz D, Klein C, Shah N, Grimbacher B, Annals NYAS.
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1. December 2011 (PID-Net)
Chronic non-bacterial osteomyelitis is associated with impaired Sp1 signaling, reduced IL10 promoter phosphorylation, and reduced myeloid IL-10 expression.Clin Immunol 141: 317-327.
Hofmann SR, Schwarz T, Möller JC, Morbach H, Schnabel A, Rösen-Wolff A, Girschick HJ, Hedrich CM
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1. December 2011 (PID-Net)
Gene therapy for SCID-X1: focus on clinical data.Mol Ther. 2011
Dec;19(12):2103-4. doi: 10.1038/mt.2011.252. PubMed PMID: 22134740; PubMed Central
Baum C.
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1. November 2011 (PID-Net)
Elevated serum BAFF levels in patients with autoimmunity and lymphoproliferation.Scand J Immunol. 2011 Nov;74(5):518-9. doi: 10.1111/j.1365-3083.2011.02597.x. PubMed
Janda A, Rensing-Ehl A, Eibel H, Ehl S, Speckmann C.
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29. October 2011 (PID-Net)
Concise review: managing genotoxicity in the therapeutic modification of stem cells.Stem Cells. 2011 Oct;29(10):1479-84. doi: 10.1002/stem.716. Review. PubMed
Baum C, Modlich U, Göhring G, Schlegelberger B.
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19. October 2011 (PID-Net)
Correction of murine SCID-X1 by lentiviral gene therapy using a codon-optimized IL2RG gene and minimal pretransplant conditioning.Mol Ther. 2011 Oct;19(10):1867-77. doi: 10.1038/mt.2011.127. Epub 2011 Jul 12. PubMed
Huston MW, van Til NP, Visser TP, Arshad S, Brugman MH, Cattoglio C, Nowrouzi A, Li Y, Schambach A, Schmidt M, Baum C, von Kalle C, Mavilio F, Zhang F, Blundell MP, Thrasher AJ, Verstegen MM, Wagemaker G.
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1. October 2011 (PID-Net)
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.Clin Immunol.,141, 73-82, 2011.
Felgentreff, K., Perez-Becker, R., Speckmann, C., Schwarz, K., Kalwak, K., Markelj, G., Avcin, T., Qasim, W., Davies, E.G., Niehues, T. und Ehl, S.
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25. September 2011 (PID-Net)
Correction of murine Rag1 deficiency by self-inactivating lentiviral vector-mediated gene transfer.Leukemia. 2011 Sep;25(9):1471-83. doi: 10.1038/leu.2011.106. Epub 2011 May 27. PubMed
Pike-Overzet K, Rodijk M, Ng YY, Baert MR, Lagresle-Peyrou C, Schambach A, Zhang F, Hoeben RC, Hacein-Bey-Abina S, Lankester AC, Bredius RG, Driessen GJ, Thrasher AJ, Baum C, Cavazzana-Calvo M, van Dongen JJ, Staal FJ.
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1. September 2011 (PID-Net)
Redundant ability of phagocytes to kill Aspergillus species.J Allergy Clin Immunol 128(3):686-7.
Roesler J und Rösen-Wolff A
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31. August 2011 (PID-Net)
Development of novel efficient SIN vectors with improved safety features for Wiskott-Aldrich syndrome stem cell based gene therapy.Mol Pharm. 2011 Oct 3;8(5):1525-37. Epub 2011 Aug 31. PubMed
Avedillo Díez I, Zychlinski D, Coci EG, Galla M, Modlich U, Dewey RA, Schwarzer A, Maetzig T, Mpofu N, Jaeckel E, Boztug K, Baum C, Klein C, Schambach A.
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1. August 2011 (PID-Net)
Development of novel efficient SIN vectors with improved safety features for Wiskott-Aldrich syndrome stem cell based gene therapy.Molecular pharmaceutics. 2011;8(5):1525-37.
Avedillo Diez I, Zychlinski D, Coci EG, Galla M, Modlich U, Dewey RA, Schwarzer A, Maetzig T, Mpofu N, Jaeckel E, Boztug K, Baum C, Klein C, Schambach A.
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8. July 2011 (PID-Net)
Diagnostik primärer Immundefekte. Vom klinisch-immunologischen Phänotyp zur molekularen Diagnose.Monatsschrift für Kinderheilkunde, 159, 434-442, 2011.
Von Bernuth, H., Schwarz, K., Renner, E.D. und Ehl, S.
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1. July 2011 (PID-Net)
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.Glycobiology. 2011;21(7):914-24.
Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, McCartney S, Furman M, Hall G, Bloom SL, Haslam SM, Morris HR, Boztug K, Klein C, Winchester B, Pick E, Linch DC, Gale RE, Smith AM, Dell A, Segal AW.
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1. April 2011 (PID-Net)
Curative treatment of two patients with combined immunodeficiency syndrome and DOCK8 mutations by hematopoietic cell transplantation.Bone Marrow Transplantation, 46, 552-556, 2011
Gatz, S.A., Benninghoff, U., Schütz, C., Schulz, A., Hönig, M., Pannicke, U., Holzmann, K.-H., Schwarz, K. und Friedrich, W.
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22. March 2011 (PID-Net)
Promoter competition for gene therapy of SCID-X1.Hum Gene Ther. 2011 Mar;22(3):255-6. PubMed
Baum C, Schambach A.
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1. March 2011 (PID-Net)
A case of syndromic neutropenia and mutation in G6PC3.Journal of pediatric hematology/oncology. 2011;33(2):138-40.
Gatti S, Boztug K, Pedini A, Pasqualini C, Albano V, Klein C, Pierani P.
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1. March 2011 (PID-Net)
Meningoencephalitis caused by varicella zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency.Pediatr Infect Dis J 30 (3): 265-266.
Roesler J, Hedrich C, Laass MW, Heyne K, Rösen-Wolff A
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1. March 2011 (PID-Net)
Hyperbillirubinemia, cholestatic hepatitis and fetal hepatic failure in TlowB-NK- Severe Combined Immunodeficiency caused by Adenosine Deaminase Deficiency (ADA-SCID).Klinische Pädiatrie, 223, 85-89, 2011.
Kühl, J.-S., Schwarz, K.., Münche, A., Schmugge, M., Pekrun, A., Meisel, C., Wahn, V., Ebell, W. und von Bernuth, H.
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23. February 2011 (PID-Net)
Genetic etiologies of severe congenital neutropenia.Current Opinion in Pediatrics. 2011;23(1):21-6.
Boztug K, Klein C
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19. February 2011 (PID-Net)
Solving the problem of γ-retroviral vectors containing long terminal repeats.Mol Ther. 2011 Feb;19(2):229-31. PubMed
Persons DA, Baum C.
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3. February 2011 (PID-Net)
Parachuting in the epigenome: the biology of gene vector insertion profiles in the context of clinical trials.EMBO Mol Med. 2011 Feb;3(2):75-7. doi: 10.1002/emmm.201000110. Epub 2011 Jan 21. PubMed
Baum C.
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20. January 2011 (PID-Net)
PD-L1 blockade effectively restores strong graft-versus-leukemia effects without graft-versus-host disease after delayed adoptive transfer of T-cell receptor gene-engineered allogeneic CD8(+) T cells.Blood. 2011;117(3):1030-41.
Koestner W, Hapke M, Herbst J, Klein C, Welte K, Fruehauf J, Flatley A, Vignali DA, Hardtke-Wolenski M, Jaeckel E, Blazar BR, Sauer MG.
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5. January 2011 (PID-Net)
Defective IL10 Signaling Defi ning a Subgroup of Patients With Inflammatory Bowel Disease.American Journal of Gastroenterology. 2011;106(8):1544-55.
Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, Canioni D, Hugot J-P, Daussy C, Verkarre V, Pigneur B, Fischer A, Klein C, Cerf-Bensussan N, Ruemmele FM.
Identified genes within the consortium (list not complete yet)
IL10R: Glocker et al, N Engl J Med, 2009 doi:10.1056/NEJMoa0907206
G6PC3: Boztug et al, N Engl J Med, 2009 doi:10.1056/NEJMoa0805051
STK4: Abdollahpour et al, Blood, 2012 doi:10.1182/blood-2011-09-378158
IL21R: Kotlarz et al, J Exp Med, 2013 doi:10.1084/jem.20111229
VPS45: Vilboux et al, N Engl J Med, 2013 doi:10.1056/NEJMoa1301296
IKBKB: Pannicke et al, New Engl J Med, 2013 doi: 10.1056/NEJMoa1309199
TTC7A: Avitzur et al, Gastroenterology, 2014 doi:10.1053/j.gastro.2014.01.015
JAGN1: Boztug et al, Nat Genet, 2014 doi:10.1038/ng.3069
TPPII: Stepensky et al, Blood, 2014 doi: 10.1182/blood-2014-08-593202
CSF3R: Triot et al, Blood, 2014 doi:10.1182/blood-2013-11-535419
AP3DI: Ammann et al, Blood 2016 doi: 10.1182/blood-2015-09-671636
SMARCD2: Witzel et al, Nat Genet, 2017 doi:10.1038/ng.3833
CARMIL2: Schober et al, Nat Commun, 2017 doi:10.1038/ncomms14209