Inheritance: X-linked (almost all patients are males)
Gene Mutation: various defects IL2RG (affects the IL-2 receptor gamma gene)
Clinical features:
(1) failure to thrive, often with a short stature for age
(2) diaper and/or oral Candidiasis
(3) absence of both tonsils
(4) absence of lymph nodes and the thymus
(5) recurrent infections that respond poorly to therapy
(6) serious infections following administration of live-virus vaccines or non-irradiated blood products
(7) Pneumocystis carinii or other opportunistic infections
(8) variable autoimmune disorders (skin rash, malabsorption with diarrhea, other)
Laboratory findings:
(1) markedly decreased T and NK lymphocytes (absent cellular immunity)
(2) B lymphocytes present but dysfunctional (impaired humoral immunity)
(3) hypogammaglobulinemia (serum IgG is normal at birth but later declines as maternal antibody disappears)
Long-term survival depends on a bone marrow transplant in early infancy.