immunodeficiency 81

A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic an

A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33.

Signs and symptoms

• Decreased neutrophil oxidative burst
• Decreased class-switched memory B cell proportion
• Autoimmune hemolytic anemia
• Decreased antigen-specific T cell proliferation
• Abnormally low T cell receptor excision circle level
• Decreased total CD4+ T cell proportion
• Abnormal natural killer cell physiology
• Recurrent infections
• Impaired collagen-induced platelet aggregation
• Petechiae