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

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

doi:10.1002/ccr3.7075

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

Clin Case Rep. 2023 Mar 14;11(3):e7075. doi: 10.1002/ccr3.7075. eCollection 2023 Mar.

Authors

Erica-Mari Nell¹, Helena Cornellissen¹, Katherine Hodkinson², Michael F Urban³, Fatima Cassim Bassa⁴, Fatima Bibi Fazel⁴, Tracey Wiggill², Semira Irusen⁴, Zivanai C Chapanduka¹

Affiliations

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

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.

Publication types

Case Reports