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

Frontiers in Immunology

Immunology

Xiaoming Huang¹  Bingxuan Wu²  Min Shen²  Xin Huang²  Di Wu² 

[1] Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China;Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China;

关键词: hemophagocytic lymphohistiocytosis (HLH);    GATA2 deficiency;    zinc finger domain;    GATA2;    Mycobacterium avium;   

DOI  :  10.3389/fimmu.2023.1191757

 received in 2023-03-22, accepted in 2023-07-28,  发布年份 2023

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

Unknown   
Copyright © 2023 Huang, Wu, Wu, Huang and Shen