| CD40 deficiency; Autosomal recessive hyper-IgM syndrome |
Panhypogammaglobulinemia; Normal or increased IgM; Neutropenia; Serum IgA, IgG, and IgE severely deficient; Lymph nodes lack germinal centers; Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation; Increased susceptibility to bacterial and opportunistic infections, such as Pneumocystis carinii; thrombocytopenia; autoimmune disease; normal or poor T-cell function; Lymphoma; opportunistic pneumonias; Aplastic anemia; severe cholangitis; Hepatic failure; IgM+ and IgD+ B cells present |
Combined T-cell and B-cell immunodeficiencies |
Autosomal recessive |