Novel pathogenic CTLA4 missense variant associated with autoimmune enteropathy and systemic immune dysregulation
BackgroundCytotoxic T-Lymphocyte-Associated Protein 4 (CTLA4) haploinsufficiency is a rare monogenic immunodysregulatory disorder that can affect multiple organ systems, leading to a combination of autoimmunity, immunodeficiency, and lymphoproliferatio…