GATA2 缺陷与噬血细胞性淋巴组织细胞增生症（HLH）：已报告病例的系统综述

GATA2 deficiency is an autosomal dominant disease that manifests with a range of clinical symptoms, including increased susceptibility to viral, bacterial, and fungal infections. Furthermore, the increased susceptibility to infections in GATA2 deficiency can trigger hemophagocytic lymphohistiocytosis (HLH) in these patients. Our systematic review evaluates reported cases of GATA2 deficiency and HLH in the literature.

A systematic review of case reports was conducted following PRISMA 2020 guidelines, encompassing studies retrieved from Ovid MEDLINE ALL, Embase via Ovid SP, Scopus, Web of Science, and Google Scholar from inception until June 14, 2024. This review included studies reporting patients diagnosed with GATA2 deficiency or having a documented history of the condition, who subsequently developed or were concurrently diagnosed with HLH. Various study types were considered, such as case reports, case series, letters to editors, original articles, correspondences, and commentaries, without any restrictions on language.

In our systematic review, 15 studies from 2016 to 2024 were analyzed, encompassing 23 patients with GATA2 deficiency and HLH. the mean (SD) age of patients was 23.48 (10.54) years, ranging from 7 to 57 years. These patients exhibited diverse genetic mutations and a spectrum of infections, particularly Mycobacterium avium (M. avium), Mycobacterium kansasii (M. kansasii), Epstein-Barr virus (EBV), cytomegalovirus (CMV), varicella-zoster virus (VZV), herpes simplex virus (HSV), and influenza A, often leading to HLH. Family histories of GATA2-deficient patients with HLH occasionally reveal confirmed GATA2 mutations or suspicious cases among first-degree relatives. Hematopoietic stem cell transplantation (HSCT) was performed in 8 patients with GATA2 deficiency and HLH. Among them, 6 patients survived post-therapy, while 2 patients died following HSCT. Currently, 1 patient is being considered for HSCT. The overall mortality rate among GATA2 deficiency patients who experienced HLH was 39.13%.

This systematic review highlights GATA2 deficiency's association with diverse infections triggering HLH, emphasizing early infection management to mitigate mortality risks. This comprehensive analysis contributes to scientific knowledge, offering important insights for clinicians and researchers in diagnosing and managing this rare condition.