Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient
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...
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| Format: | Article |
| Language: | English |
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Wiley
2023-03-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.7075 |
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| author | Erica‐Mari Nell Helena Cornellissen Katherine Hodkinson Michael F. Urban Fatima Cassim Bassa Fatima Bibi Fazel Tracey Wiggill Semira Irusen Zivanai C. Chapanduka |
| author_facet | Erica‐Mari Nell Helena Cornellissen Katherine Hodkinson Michael F. Urban Fatima Cassim Bassa Fatima Bibi Fazel Tracey Wiggill Semira Irusen Zivanai C. Chapanduka |
| author_sort | Erica‐Mari Nell |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9e6bbd8ef3bc401c930d760f53e76a8b |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2023-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-9e6bbd8ef3bc401c930d760f53e76a8b2025-08-20T03:47:23ZengWileyClinical Case Reports2050-09042023-03-01113n/an/a10.1002/ccr3.7075Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patientErica‐Mari Nell0Helena Cornellissen1Katherine Hodkinson2Michael F. Urban3Fatima Cassim Bassa4Fatima Bibi Fazel5Tracey Wiggill6Semira Irusen7Zivanai C. Chapanduka8Division of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South AfricaDivision of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South AfricaDepartment of Molecular Medicine and Haematology, Faculty of Health Sciences University of the Witwatersrand and National Health Laboratory Service Johannesburg South AfricaDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Science Stellenbosch University Stellenbosch South AfricaDivision of Clinical Haematology, Department of Internal Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital Cape Town South AfricaDivision of Clinical Haematology, Department of Internal Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital Cape Town South AfricaDepartment of Molecular Medicine and Haematology, Faculty of Health Sciences University of the Witwatersrand and National Health Laboratory Service Johannesburg South AfricaDivision of Clinical Haematology, Department of Internal Medicine, Faculty of Medicine and Health Sciences Stellenbosch University and Tygerberg Hospital Cape Town South AfricaDivision of Haematological Pathology, Faculty of Medicine and Health Sciences Stellenbosch University and National Health Laboratory Service, Tygerberg Hospital Cape Town South AfricaAbstract 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.https://doi.org/10.1002/ccr3.7075GATA2 deficiencyinborn errors of immunitylymphoedemamyelodysplastic syndromemyeloid neoplasms with germline predispositionnon‐tuberculous mycobacterium |
| spellingShingle | Erica‐Mari Nell Helena Cornellissen Katherine Hodkinson Michael F. Urban Fatima Cassim Bassa Fatima Bibi Fazel Tracey Wiggill Semira Irusen Zivanai C. Chapanduka Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient Clinical Case Reports GATA2 deficiency inborn errors of immunity lymphoedema myelodysplastic syndrome myeloid neoplasms with germline predisposition non‐tuberculous mycobacterium |
| 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 | GATA2 deficiency inborn errors of immunity lymphoedema myelodysplastic syndrome myeloid neoplasms with germline predisposition non‐tuberculous mycobacterium |
| url | https://doi.org/10.1002/ccr3.7075 |
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