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

Autor: Nell EM; Division of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South Africa., Cornellissen H; Division of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South Africa., Hodkinson K; Department of Molecular Medicine and Haematology, Faculty of Health Sciences University of the Witwatersrand and National Health Laboratory Service Johannesburg South Africa., Urban MF; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Science Stellenbosch University Stellenbosch South Africa., Bassa FC; Division of Clinical Haematology, Department of Internal Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital Cape Town South Africa., Fazel FB; Division of Clinical Haematology, Department of Internal Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital Cape Town South Africa., Wiggill T; Department of Molecular Medicine and Haematology, Faculty of Health Sciences University of the Witwatersrand and National Health Laboratory Service Johannesburg South Africa., Irusen S; Division of Clinical Haematology, Department of Internal Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital Cape Town South Africa., Chapanduka ZC; Division of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South Africa.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2023 Mar 14; Vol. 11 (3), pp. e7075. Date of Electronic Publication: 2023 Mar 14 (Print Publication: 2023).
DOI: 10.1002/ccr3.7075
Abstrakt: 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.
Competing Interests: The authors have no conflicts of interest to disclose.
(© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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