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

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...

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Autores principales: Nell, Erica‐Mari, Cornellissen, Helena, Hodkinson, Katherine, Urban, Michael F., Bassa, Fatima Cassim, Fazel, Fatima Bibi, Wiggill, Tracey, Irusen, Semira, Chapanduka, Zivanai C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014512/
https://www.ncbi.nlm.nih.gov/pubmed/36937639
http://dx.doi.org/10.1002/ccr3.7075
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author Nell, Erica‐Mari
Cornellissen, Helena
Hodkinson, Katherine
Urban, Michael F.
Bassa, Fatima Cassim
Fazel, Fatima Bibi
Wiggill, Tracey
Irusen, Semira
Chapanduka, Zivanai C.
author_facet Nell, Erica‐Mari
Cornellissen, Helena
Hodkinson, Katherine
Urban, Michael F.
Bassa, Fatima Cassim
Fazel, Fatima Bibi
Wiggill, Tracey
Irusen, Semira
Chapanduka, Zivanai C.
author_sort Nell, Erica‐Mari
collection PubMed
description 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.
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spelling pubmed-100145122023-03-16 Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient Nell, Erica‐Mari Cornellissen, Helena Hodkinson, Katherine Urban, Michael F. Bassa, Fatima Cassim Fazel, Fatima Bibi Wiggill, Tracey Irusen, Semira Chapanduka, Zivanai C. Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-03-14 /pmc/articles/PMC10014512/ /pubmed/36937639 http://dx.doi.org/10.1002/ccr3.7075 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nell, Erica‐Mari
Cornellissen, Helena
Hodkinson, Katherine
Urban, Michael F.
Bassa, Fatima Cassim
Fazel, Fatima Bibi
Wiggill, Tracey
Irusen, Semira
Chapanduka, Zivanai C.
Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
title Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
title_full Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
title_fullStr Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
title_full_unstemmed Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
title_short Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
title_sort infection and myelodysplasia: a case report of gata2 deficiency in a south african patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014512/
https://www.ncbi.nlm.nih.gov/pubmed/36937639
http://dx.doi.org/10.1002/ccr3.7075
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