A1 German Network on Primary Immunodeficiency Diseases – Genetic Diagnosis and Therapy of Primary Immunodeficiency Diseases (Support Code: 01GM1517A)

PRINCIPAL INVESTIGATOR
OF THE SUBPROJECT

Prof. Klein

Christoph Klein

Christoph Klein, Prof. Dr. med. Dr. sci.
Dr. von Haunersches Childrens Hospital
Lindwurmstr. 4
80337 München
Phone.: +49 89 4400-57700
Fax.: +49 89 4400-57702
E-Mail: christoph.klein@med.uni-muenchen.de


TITLE OF SUBPROJECT

German Network on Primary Immunodeficiency Diseases – Genetic diagnosis and therapy


CONDITION/TOPIC

Primary Immunodeficiency Disorders (PID)


OBJECTIVE(S)

  1. The identification of further novel genetic defects causing PID
  2. The elucidation of the pathophysiology of defined PID syndromes
  3. The access to rapid molecular diagnosis in patients with PID
  4. The determination of genotype-phenotype correlations in patients with PID
  5. The determination of biomarkers for patients with PID
  6. The identification of new inborn conditions causing PID, on the genetic, immunological and clinical level
  7. The induction of patient-specific pluripotent stem cell (iPSC) systems and knock-out models
  8. The identification and validation of new therapeutic approaches for PID patients
  9. The development and characterization of novel vectors for gene therapy
  10. The further development of the national registry for PID

SUMMARY

Primary immunodeficiency disorders (PID) are rare inborn errors of the immune system. Characteristic for PID are the predisposition to recurrent infections, autoimmunity, allergy, and cancer. The identification of the underlying genetic causes and the pathophysiological basis of these rare diseases, are not only important for the development of innovative gene-based therapeutic strategies, but have 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 severe combined immunodeficiency disease, autoimmune lymphoproliferative diseases, autoinflammatory diseases and PID with colitis. Furthermore PID-NET scientists will coordinate a national platform to establish innovative cellular model systems to develop and characterize new gene based therapies for patients with defined primary immunodeficiency disorders. A national registry, established during the last years of funding, will be expanded and constitutes a key element of this collaboratory effort. In summary, PID-NET will play a substantial role in coordinating primary immunodeficiency research in Germany and thus will ultimately help to improve diagnosis and therapy of patients with rare inherited immunodeficiency syndromes.