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

Mesh : Male Humans Adult GATA2 Deficiency / complications diagnosis genetics Lymphohistiocytosis, Hemophagocytic / diagnosis genetics Mycobacterium avium-intracellulare Infection / complications diagnosis Haploinsufficiency Zinc Fingers / genetics GATA2 Transcription Factor / genetics

来  源:   DOI:10.3389/fimmu.2023.1191757   PDF(Pubmed)

Abstract:
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.
摘要:
GATA2单倍体不足,也称为GATA2缺乏症,导致广泛的临床表现。在这里,我们描述了另一位患有GATA2变体的28岁男性,他也患有噬血细胞性淋巴组织细胞增生症(HLH),由于原发性免疫缺陷,最终被诊断为由鸟分枝杆菌血流感染引发的HLH。我们回顾了GATA2缺乏HLH患者,发现导致锌指结构域丢失的GATA2变体与HLH相关。结节性红斑可能是伴随症状.
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