{Reference Type}: Case Reports
{Title}: A rare disease: ZAP70 deficiency.
{Author}: Erdogan S;Cakmak SC;Gurkan A;Akkus CH;Karakayali B;Dogan OA;Sozeri B;
{Journal}: North Clin Istanb
{Volume}: 11
{Issue}: 2
{Year}: 2024
暂无{DOI}: 10.14744/nci.2022.89646
{Abstract}: 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.