{"title":"一种罕见疾病:ZAP70 缺乏症。","authors":"Seher Erdogan, Selen Ceren Cakmak, Atay Gurkan, Canan Hasbal Akkus, Burcu Karakayali, Ozlem Akgun Dogan, Betul Sozeri","doi":"10.14744/nci.2022.89646","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":11779,"journal":{"name":"Epidemiology","volume":"17 1","pages":"167-170"},"PeriodicalIF":4.7000,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11095332/pdf/","citationCount":"0","resultStr":"{\"title\":\"A rare disease: ZAP70 deficiency.\",\"authors\":\"Seher Erdogan, Selen Ceren Cakmak, Atay Gurkan, Canan Hasbal Akkus, Burcu Karakayali, Ozlem Akgun Dogan, Betul Sozeri\",\"doi\":\"10.14744/nci.2022.89646\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":11779,\"journal\":{\"name\":\"Epidemiology\",\"volume\":\"17 1\",\"pages\":\"167-170\"},\"PeriodicalIF\":4.7000,\"publicationDate\":\"2024-04-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11095332/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Epidemiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14744/nci.2022.89646\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q1\",\"JCRName\":\"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epidemiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14744/nci.2022.89646","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}
引用次数: 0
摘要
Zeta 相关蛋白(ZAP)70 缺乏症是一种罕见疾病。ZAP70 缺乏症会导致常染色体隐性遗传的重症联合免疫缺陷病(SCID),其特征是 CD8 T 细胞选择性缺乏。如果患者表现为重症联合免疫缺陷表型和 CD8 T 细胞选择性缺乏,则应怀疑该病的诊断。ZAP70 基因测序可以确诊。我们想通过介绍一名 5 个月大的患者,强调在鉴别诊断中也应注意免疫缺陷,该患者以皮疹和咳嗽为主诉来我院就诊,长期使用机械通气进行呼吸支持,并被诊断为 ZAP70 缺乏症。
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.
期刊介绍:
Epidemiology publishes original research from all fields of epidemiology. The journal also welcomes review articles and meta-analyses, novel hypotheses, descriptions and applications of new methods, and discussions of research theory or public health policy. We give special consideration to papers from developing countries.