{Reference Type}: Case Reports
{Title}: ZAP-70 mutation: a case with familial autoimmune haemolytic anaemia and immune deficiency.
{Author}: Abd Elhamed MM;Wali Y;Youssry I;
{Journal}: BMJ Case Rep
{Volume}: 17
{Issue}: 3
{Year}: 2024 Mar 18
暂无{DOI}: 10.1136/bcr-2023-258835
{Abstract}: Zeta-chain associated protein kinase 70 kDa (ZAP-70) deficiency is one of the rare immunodeficiency disorders due to autosomal recessive homozygous or compound heterozygous loss-of-function mutations in the ZAP-70 GENE In the literature, patients with ZAP-70 deficiency have been reported with a broad spectrum of clinical manifestations including recurrent respiratory infections (81.8%), cutaneous involvement (57.9%), lymphoproliferation (32.4%), autoimmunity (19.4%), enteropathy (18.4%) and increased risk of malignancies (8.1%). The most common immunological phenotype in those patients was low CD8+ T cell counts (97.9%) and normal non-functioning CD4+ T cell. Haematopoietic stem cell transplantation was applied as a curative treatment for this disorder.