Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient.

感染和骨髓增生异常 ： 南非患者 GATA2 缺乏症一例。

• 发表时间: Mar 2023
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.7075
• PMID: 36937639
• 文章类型: Case Reports
• 作者列表: Nell EM,Cornellissen H,Hodkinson K,Urban MF,Bassa FC,Fazel FB,Wiggill T,Irusen S,Chapanduka ZC

关键词: GATA2 deficiency; inborn errors of immunity; lymphoedema; myelodysplastic syndrome; myeloid neoplasms with germline predisposition; non‐tuberculous mycobacterium

Abstract

Rare diseases often result in delays in diagnosis. It is important to recognize conditions that have features of both inborn errors of immunity and predispose to myeloid neoplasia. Here we report a patient with GATA2 deficiency that presented with disseminated non-tuberculous mycobacterial infection and pancytopenia secondary to myelodysplastic syndrome.

摘要

罕见疾病通常会导致诊断延迟。重要的是要认识到具有先天性免疫错误和髓样瘤形成倾向的特征的疾病。在这里，我们报告了一名GATA2缺乏症患者，该患者表现为弥漫性非结核性分枝杆菌感染和继发于骨髓增生异常综合征的全血细胞减少症。