{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:44:10Z","timestamp":1790419450378,"version":"4.1.0"},"reference-count":9,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,21]]},"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:p>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 <jats:italic>GENE<\/jats:italic>. 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\u2009cell counts (97.9%) and normal non-functioning CD4+ T\u2009cell. Haematopoietic stem cell transplantation was applied as a curative treatment for this disorder.<\/jats:p>","DOI":"10.1136\/bcr-2023-258835","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T13:40:23Z","timestamp":1710769223000},"page":"e258835","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["ZAP-70 mutation: a case with familial autoimmune haemolytic anaemia and immune deficiency"],"prefix":"10.1136","volume":"17","author":[{"given":"Mai M","family":"Abd Elhamed","sequence":"first","affiliation":[{"name":"Pediatrics, Cairo University Kasr Alainy Faculty of Medicine, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4275-4524","authenticated-orcid":false,"given":"Yasser","family":"Wali","sequence":"additional","affiliation":[{"name":"Department of Child Health, Sultan Qaboos University, Muscat, Oman"},{"name":"Alexandria University Faculty of Medicine, Alexandria, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5972-7712","authenticated-orcid":false,"given":"Ilham","family":"Youssry","sequence":"additional","affiliation":[{"name":"Pediatrics, Cairo University Kasr Alainy Faculty of Medicine, Cairo, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"key":"2025082701082964000_17.3.e258835.1","doi-asserted-by":"crossref","first-page":"831","DOI":"10.3389\/fimmu.2020.00831","article-title":"Clinical, immunological, and genetic features in 49 patients with ZAP-70 deficiency: a systematic review","volume":"11","author":"Sharifinejad","year":"2020","journal-title":"Front Immunol"},{"key":"2025082701082964000_17.3.e258835.2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-immunol-042617-053335"},{"key":"2025082701082964000_17.3.e258835.3","doi-asserted-by":"crossref","unstructured":"Luo X , Liu Q , Zhou L , et al . Two patients with ZAP-70 deficiency in China present with a different genetic, immunological, and clinical phenotype. 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Combined immunodeficiency caused by pathogenic variants in the Zap70 C-terminal Sh2 domain. 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