%0 Case Reports
%T A rare disease: ZAP70 deficiency.
%A Erdogan S
%A Cakmak SC
%A Gurkan A
%A Akkus CH
%A Karakayali B
%A Dogan OA
%A Sozeri B
%J North Clin Istanb
%V 11
%N 2
%D 2024
%M 38757100
暂无%R 10.14744/nci.2022.89646
%X Zeta associated protein (ZAP) 70 deficiency is a rare disease. ZAP70 deficiency results in an autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a selective absence of CD8 T cells. The diagnosis should be suspected in patients presenting with a severe combined immunodeficiency phenotype and selective deficiency of CD8 T cells. Sequencing of the ZAP70 gene can confirm the diagnosis. We wanted to emphasize that immunodeficiencies should also be remembered in the differential diagnosis by presenting a 5-month-old patient who applied to our clinic with complaints of skin rash and cough, was given respiratory support with mechanical ventilation for a long time, and was diagnosed with ZAP70 deficiency.