Discovery and Evaluation of new Combined Immunodeficiency Disease Entities (DECIDE)

• Applicant: Professor Dr. Klaus Warnatz
• Subject Area: Pediatric and Adolescent Medicine ; Rheumatology
• Term: from 2015 to 2020
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 277697406

Combined immunodeficiency (CID) describes a condition defined by the failure of the cellular and humoral immune system. The degree of this failure varies from nearly complete absence of the adaptive immune system in severe combined immunodeficiency (SCID), whenaffected children - if untreated - die within the first year of life due to overwhelming infections, to mild forms diagnosed based on numerical alterations mainly of the T cells. Profound CID (pCID) refers to disease entities which are associated with a high morbidity andmortality but do not lead to death within the first year. While the genetic background of most SCID related genes has been identified and new born screening programs have been started world wide to screen for these patients, the molecular origin of pCID is less wellunderstood and common screening tests often fail due to the heterogeneous origin of this group of diseases. Given the frequently autosomal-recessive trait of inheritance pCID is more often found in ethnic groups with a higher prevalence of consanguineous marriages.In a trilateral cooperation between physicians and scientists from Palestinian hospitals, Hadassah University in Israel and the Centre for Chronic Immunodeficiency in Germany DECIDE seeks to identify children with pCID, discover and evaluate the underlying molecularcause of their disease and thereby determine better treatment Options including hematopoietic stem cell transplantation (HSCT). Through the close combined effort we will describe the individual clinical, genetic and immunological side of the disease in detail. The discoveryof new genetic causes of pCID and their functional evaluation will not only be advantageous for the affected family, but it will provide new important information on diagnosis and therapy of this severe sickness to the whole field of immunodeficiency and often the newinsights even expand our comprehension of basic immunology. Through common educational programs DECIDE will increase the awareness of this disease group, build new facilities in Israel andPalestine for the diagnosis and research of human immunodeficiency and thus strengthen the long-term collaboration between Palestinian, Israeli and German physicians and scientists.

• DFG Programme: Research Grants
• International Connection: Israel, Palestine
• International Co-Applicants: Dr. Omar Abuzaitoun; Professorin Dr. Polina Stepensky