Research for Rare - Research for rare diseases

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.

Projekte
Kontakt
Coordinator:
Prof. Dr. C. Klein
Children’s Hospital
Dr. von Haunersches Kinderspital
Hospital of the Ludwig-Maximilians-University (LMU)
Lindwurmstrasse 4
80337 München
Tel: 089-4400 57701

Coordinating office:
Dr. R. Steck
Tel: 089-4400 57977
regina.steck@med.uni-muenchen.de
Website: www.pid-net.org

Publications

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

Presentation of the German Research Network on Primary Immunodeficiencies