CTLA-4 Deficiency

The goal of this website is to inform patients and their relatives, physicians and scientists about the molecular basis of and the clinical manifestations that can result from CTLA-4 deficiency. Should you have any additional questions you are very welcome to contact us at any time.

CTLA-4 deficiency (cytotoxic T-lymphocyte-associated protein-4 deficiency), which results from a germline mutation in the CTLA4 gene, can cause an immune defect- and immune dysregulation syndrome in mutation carriers. The inheritance pattern is autosomal-dominant, which means that the chance to inherit the mutation is 50%. Both the penetrance and the expressivity are reduced, therefore not all mutation carriers show symptoms, and the severity of the clinical manifestations can vary in individual patients. Patients often develop a syndrome that includes antibody deficiency, recurrent respiratory infections, enteropathy with severe diarrhea, autoimmunity and lymphocytic organ infiltrations. This variability of the disease pattern raises the possibility that additional genetic or physiological factors might contribute to the clinical phenotype.

We hope that the discovery of mutations in the CTLA4 gene can contribute to a better understanding of the complex clinical picture of this antibody deficiency syndrome, and it is our goal to use this knowledge to develop personalized treatment strategies for the individual patient. We also see the possibility that this will lead to a better understanding of other primary immunodeficiencies (PID) that are a prominent area of research at the CCI (Center for Chronic Immunodeficiency) in Freiburg, Germany.