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case_report·hematology, immunology, internal medicine, infectious disease, dermatology·PMC10014512

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

Clinical Case Reports · 9 authors, 4 centres

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TL;DR

This is a single-patient case report of a 24-year-old male with persistent severe pancytopenia.

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This is a single-patient case report of a 24-year-old male with persistent severe pancytopenia. Clinical history included tuberculosis lymphadenitis at age 11, deep vein thrombosis leading to unilateral lymphoedema, progressive sensorineural hearing loss, and cutaneous viral warts.

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case_report

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hematology

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ORIGINAL PAPER

PMC10014512

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

Clinical Case Reports

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ABSTRACT

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. Keywords: GATA2 deficiency, inborn errors of immunity, lymphoedema, myelodysplastic syndrome, myeloid neoplasms with germline predisposition, non‐tuberculous mycobacterium

CITATION EXPORT

Erica‐Mari Nell, Helena Cornellissen, Katherine Hodkinson et al.. Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient. Clinical Case Reports. (2023). https://doi.org/10.1002/ccr3.7075

AUTHORS

9 · 4 CENTRES

Erica‐Mari Nell, Helena Cornellissen, Katherine Hodkinson, Michael F Urban, Fatima Cassim Bassa, Fatima Bibi Fazel, Tracey Wiggill, Semira Irusen, Zivanai C Chapanduka

1 Division of Haematological Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital, Cape Town, South Africa
2 Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa
3 Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Science, Stellenbosch University, Stellenbosch, South Africa
4 Division of Clinical Haematology, Department of Internal Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa