Infection and myelodysplasia: A case report of <scp>GATA2</scp> deficiency in a South African patient-Reference-Cited by-同舟云学术

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

Published:2023-03 Issue:3 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Nell Erica‐Mari¹^ORCID,Cornellissen Helena¹,Hodkinson Katherine²,Urban Michael F.³^ORCID,Bassa Fatima Cassim⁴,Fazel Fatima Bibi⁴,Wiggill Tracey²^ORCID,Irusen Semira⁴,Chapanduka Zivanai C.¹

Affiliation:

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

Abstract

AbstractRare 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7075

Reference13 articles.

1. Peripheral‐blood cytopenia, an early indicator of inborn errors of immunity

2. Aetiology of pancytopenia: Experience of a South African tertiary academic centre

3. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

4. Haematopoietic and immune defects associated with GATA2 mutation

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