Inheritance: autosomal recessive
Gene Mutation: ZAP70, with stimulation of the T-cell receptor failing to elicit a normal response
Clinical features:
(1) onset during infancy
(2) failure to thrive
(3) diaper and/or oral Candidiasis
(4) recurrent infections that respond poorly to therapy
(5) serious infections following administration of live-virus vaccines or non-irradiated blood products
(6) Pneumocystis carinii or other opportunistic infections
(7) subcutaneous nodules
(8) lymphadenopathy
(9) exfoliative dermatitis
(10) thrombocytopenia
(11) diarrhea with chronic gastroenteritis or ulcerative colitis
Laboratory findings:
(1) normal B and NK lymphocyte counts
(2) CD3 and CD4 positive T lymphocyte count are normal or elevated
(3) CD8 positive T lymphocytes are absent or very low
(4) poor lymphocyte response to stimulation of TCR
(5) variable levels of immunoglobulins (may be elevated, normal or depressed)
(6) absent or markedly decreased immunostaining with anti-ZAP70
Long-term survival depends on a bone marrow transplant in early infancy.
