Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis

Haploinsufficiency of GATA2, also known as GATA2 deficiency, leads to a wide spectrum of clinical manifestations. Here we described another 28-year-old man with a GATA2 variant who also suffered from hemophagocytic lymphohistiocytosis(HLH), who was finally diagnosed with HLH triggered by Mycobacteri...

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Detalles Bibliográficos
Autores principales: Huang, Xin, Wu, Bingxuan, Wu, Di, Huang, Xiaoming, Shen, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10482092/
https://www.ncbi.nlm.nih.gov/pubmed/37680631
http://dx.doi.org/10.3389/fimmu.2023.1191757
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author Huang, Xin
Wu, Bingxuan
Wu, Di
Huang, Xiaoming
Shen, Min
author_facet Huang, Xin
Wu, Bingxuan
Wu, Di
Huang, Xiaoming
Shen, Min
author_sort Huang, Xin
collection PubMed
description Haploinsufficiency of GATA2, also known as GATA2 deficiency, leads to a wide spectrum of clinical manifestations. Here we described another 28-year-old man with a GATA2 variant who also suffered from hemophagocytic lymphohistiocytosis(HLH), who was finally diagnosed with HLH triggered by Mycobacterium avium bloodstream infection due to primary immunodeficiency. We reviewed GATA2 deficiency patients with HLH and found that GATA2 variants causing loss of zinc finger domains were associated with HLH, and erythema nodosa might be an accompanying symptom.
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spelling pubmed-104820922023-09-07 Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis Huang, Xin Wu, Bingxuan Wu, Di Huang, Xiaoming Shen, Min Front Immunol Immunology Haploinsufficiency of GATA2, also known as GATA2 deficiency, leads to a wide spectrum of clinical manifestations. Here we described another 28-year-old man with a GATA2 variant who also suffered from hemophagocytic lymphohistiocytosis(HLH), who was finally diagnosed with HLH triggered by Mycobacterium avium bloodstream infection due to primary immunodeficiency. We reviewed GATA2 deficiency patients with HLH and found that GATA2 variants causing loss of zinc finger domains were associated with HLH, and erythema nodosa might be an accompanying symptom. Frontiers Media S.A. 2023-08-23 /pmc/articles/PMC10482092/ /pubmed/37680631 http://dx.doi.org/10.3389/fimmu.2023.1191757 Text en Copyright © 2023 Huang, Wu, Wu, Huang and Shen https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Huang, Xin
Wu, Bingxuan
Wu, Di
Huang, Xiaoming
Shen, Min
Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
title Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
title_full Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
title_fullStr Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
title_full_unstemmed Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
title_short Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis
title_sort case report: missing zinc finger domains: hemophagocytic lymphohistiocytosis in a gata2 deficiency patient triggered by non-tuberculous mycobacteriosis
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10482092/
https://www.ncbi.nlm.nih.gov/pubmed/37680631
http://dx.doi.org/10.3389/fimmu.2023.1191757
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