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

被引：2

作者：

Nell, Erica-Mari ^{[1
,2
,8
]}

Cornellissen, Helena ^{[1
,2
]}

Hodkinson, Katherine ^{[3
,4
]}

Urban, Michael F. ^{[5
]}

Bassa, Fatima Cassim

Fazel, Fatima Bibi

Wiggill, Tracey ^{[3
,4
]}

Irusen, Semira ^{[6
,7
]}

Chapanduka, Zivanai C. ^{[1
,2
]}

机构：

[1] Stellenbosch Univ Cape Town, Fac Med & Hlth Sci, Div Haematol Pathol, Cape Town, South Africa

[2] Tygerberg Hosp, Natl Hlth Lab Serv, Cape Town, South Africa

[3] Univ Witwatersrand, Fac Hlth Sci, Dept Mol Med & Haematol, Johannesburg, South Africa

[4] Natl Hlth Lab Serv, Johannesburg, South Africa

[5] Stellenbosch Univ, Fac Med & Hlth Sci, Div Mol Biol & Human Genet, Stellenbosch, South Africa

[6] Stellenbosch Univ Cape Town, Fac Med & Hlth Sci, Dept Internal Med, Div Clin Haematol, Cape Town, South Africa

[7] Tygerberg Hosp, Cape Town, South Africa

[8] Tygerberg Hosp, 9th Floor, Gold Ave, West Wing, Francie van Zyl Dr, ZA-7505 Cape Town, South Africa

来源：

CLINICAL CASE REPORTS | 2023年 / 11卷 / 03期

关键词：

GATA2; deficiency; inborn errors of immunity; lymphoedema; myelodysplastic syndrome; myeloid neoplasms with germline predisposition; non-tuberculous mycobacterium;

D O I：

10.1002/ccr3.7075

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：7

共 13 条

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