一种罕见疾病:ZAP70 缺乏症。

IF 4.7 2区 医学 Q1 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH Epidemiology Pub Date : 2024-04-18 eCollection Date: 2024-01-01 DOI:10.14744/nci.2022.89646
Seher Erdogan, Selen Ceren Cakmak, Atay Gurkan, Canan Hasbal Akkus, Burcu Karakayali, Ozlem Akgun Dogan, Betul Sozeri
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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。
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A rare disease: ZAP70 deficiency.

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.

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来源期刊
Epidemiology
Epidemiology 医学-公共卫生、环境卫生与职业卫生
CiteScore
6.70
自引率
3.70%
发文量
177
审稿时长
6-12 weeks
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.
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