German network for the research and treatment-optimization of patients with multi-organ autoimmunity (GAIN)
Multi-organ autoimmune diseases belong to the “ultra-rare” disorders and have only recently been recognized being caused by monogenetic mutations in immune-regulatory genes. Patients are typically characterized by multi-organ inflammation including, but not limited to the bone marrow, gut, lungs, kidneys, skin, and the central nervous system (CNS). Genes recently added to the list include CTLA4, LRBA, NFκB1, NFκB2, STAT3, and LAT. This cohort of patients also provides a frontier in medicine, as these rare monogenetic disorders are highly instructive for understanding and treating also more prevalent polygenic autoimmune disorders.
To support those patients, GAIN investigates the underlying molecular and cellular pathomechanisms in multi-organ autoimmune diseases and the molecular interventions that can influence or correct cellular pathology. The aim is to gain a better understanding of pathophysiology in patients with congenital defects of the immune system and to improve treatment.Projects
- Registry of the German multi-organ Auto-Immunity Network (GAIN-registry): Dr. med. Dipl. Ing. Gerhard Kindle and PD Dr. rer. nat. Alexandra Nieters, Medical Center – University of Freiburg.
- Consortial Biobank for patients with Inborn Errors of Multi-Organ Autoimmune Diseases: Prof. Dr. rer. nat. Thomas Illig, Hannover Medical School.
- CTLA4 insufficiency: Prof. Dr. med. Bodo Grimbacher, Medical Center – University of Freiburg.
- Immune dysregulation due to NFKB1 defects: Prof. Dr. med. Klaus Warnatz, Medical Center – University of Freiburg.
- STAT3 gain-of-function (GOF) associated disease: Prof. Dr. med. Stephan Ehl, Medical Center – University of Freiburg.
- Initial description of human DGKζ –deficiency: PD Dr. med. Dr. sci. nat. Fabian Hauck, Medical Center of the University of Munich.
- The role of GARP in monogenic traits of multi-organ autoimmunity: PD Dr. Alla Skapenko and Prof. Dr. med. Hendrik Schulze-Koops, Medical Center of the University of Munich.
- Monogenetic immune dysregulation syndromes and their effect on the plasma cell compartment: Prof. Dr. med. Bimba Franziska Hoyer and Prof. Dr. med. Philip Rosenstiel, University Hospital Schleswig-Holstein Kiel and Prof. Dr. rer. nat. Andreas Radbruch, Charité Berlin.
- Identification of epigenetic factors in multi-organ autoimmunit : Dr. rer. nat. Faranaz Atschekzei and Prof. Dr. med. Reinhold Ernst Schmidt, Hannover Medical School.
- Safety and Efficacy of abatacept (s.c.) in patients with CTLA4 insufficiency and LRBA deficiency (ABACHAI): Prof. Dr. med. Bodo Grimbacher, Medical Center – University of Freiburg.
Prof. Dr. med Bodo Grimbacher
Medical Center – University of Freiburg
Institute for Immunodeficiency,
Breisacher Str. 115
79106 Freiburg i. Br.
Phone +49 761 27077-732