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

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dc.contributor.authorNell, Erica-Mari
dc.contributor.authorCornellissen Helena
dc.contributor.authorHodkinson, Katherine
dc.contributor.authorUrban, Michael F.
dc.contributor.authorBassa, Fatima Cassim
dc.contributor.authorFazel, Fatima Bibi
dc.contributor.authorWiggill, Tracey
dc.contributor.authorIrusen, Semira
dc.contributor.authorChapanduka, Zivanai C.
dc.date.accessioned2026-06-08T12:10:58Z
dc.date.issued2023-03
dc.departmentMolecular Medicine and Haematology
dc.description.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.
dc.description.submitterPM2026
dc.facultyFaculty of Health Sciences
dc.identifier0000-0001-8761-2162
dc.identifier.citationNell E-M, Cornellissen H, Hodkinson K, et al. Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient. Clin Case Rep. 2023;11:e7075. doi:10.1002/ccr3.7075
dc.identifier.issn2050-0904 (online)
dc.identifier.other10.1002/ccr3.7075
dc.identifier.urihttps://hdl.handle.net/10539/49427
dc.journal.titleClinical Case Reports
dc.language.isoen
dc.publisherWiley
dc.rights© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License.
dc.schoolSchool of Pathology
dc.subjectGATA2 deficiency
dc.subjectInborn errors of immunity
dc.subjectLymphoedema
dc.subjectMyelodysplastic syndrome
dc.subjectMyeloid neoplasms with germline predisposition
dc.subjectnon-tuberculous mycobacterium
dc.subjectNon-tuberculous mycobacterium
dc.subject.primarysdgSDG-3: Good health and well-being
dc.titleInfection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
dc.typeArticle

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