感染与骨髓增生异常综合征：一名南非患者GATA2缺乏症的病例报告。
Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient.
作者信息
Nell Erica-Mari, Cornellissen Helena, Hodkinson Katherine, Urban Michael F, Bassa Fatima Cassim, Fazel Fatima Bibi, Wiggill Tracey, Irusen Semira, Chapanduka Zivanai C
机构信息
Division of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South Africa.
Department of Molecular Medicine and Haematology, Faculty of Health Sciences University of the Witwatersrand and National Health Laboratory Service Johannesburg South Africa.
出版信息
Clin Case Rep. 2023 Mar 14;11(3):e7075. doi: 10.1002/ccr3.7075. eCollection 2023 Mar.
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.
罕见病常常导致诊断延迟。识别那些既有先天性免疫缺陷特征又易患髓系肿瘤的病症很重要。在此，我们报告一名患有GATA2缺陷的患者，该患者出现播散性非结核分枝杆菌感染以及继发于骨髓增生异常综合征的全血细胞减少。
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