ZAP-70 deficiency

Nearly all patients with ZAP-70 defects presented with typical clinical features of SCID in early life: severe pulmonary infection often sustained by opportunistic pathogens (Pneumocystis Carinii), chronic diarrhea, failure to thrive, and persistent candidiasis. Most patients have detectable lymphoid tissue since peripheral blood lymphocyte counts are normal or elevated.

Therapeutic options