Gastroenterology and Hepatology Research Center, Institute of Basic and Clinical Physiology Sciences, Kerman University of Medical Sciences, Kerman, Iran.
Faculty of Medicine, Kerman University of Medical Sciences, Kerman, Iran.
BMC Infect Dis. 2024 Nov 4;24(1):1239. doi: 10.1186/s12879-024-10145-1.
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.
GATA2 缺陷是一种常染色体显性疾病，表现为多种临床症状，包括易感染病毒、细菌和真菌。此外，GATA2 缺陷患者易感染会触发噬血细胞性淋巴组织细胞增生症（HLH）。我们的系统评价评估了文献中报道的 GATA2 缺陷和 HLH 病例。
按照 PRISMA 2020 指南进行系统评价，纳入了从 Ovid MEDLINE ALL、Embase 通过 Ovid SP、Scopus、Web of Science 和 Google Scholar 从成立到 2024 年 6 月 14 日检索到的研究。本综述包括报道诊断为 GATA2 缺陷或有明确病史的患者，随后发生或同时诊断为 HLH 的研究。考虑了各种研究类型，如病例报告、病例系列、给编辑的信、原始文章、信件、评论等，没有任何语言限制。
在我们的系统评价中，分析了 2016 年至 2024 年的 15 项研究，共纳入 23 例 GATA2 缺陷和 HLH 患者。患者的平均（SD）年龄为 23.48（10.54）岁，年龄范围为 7 至 57 岁。这些患者表现出不同的基因突变和一系列感染，特别是鸟分枝杆菌（M. avium）、堪萨斯分枝杆菌（M. kansasii）、EB 病毒（EBV）、巨细胞病毒（CMV）、水痘-带状疱疹病毒（VZV）、单纯疱疹病毒（HSV）和流感 A，常导致 HLH。GATA2 缺陷伴 HLH 患者的家族史偶尔会发现一级亲属中明确的 GATA2 突变或可疑病例。对 8 例 GATA2 缺陷和 HLH 患者进行了造血干细胞移植（HSCT）。其中，6 例患者在治疗后存活，2 例患者在 HSCT 后死亡。目前，有 1 例患者正在考虑 HSCT。经历 HLH 的 GATA2 缺陷患者的总死亡率为 39.13%。
本系统评价强调了 GATA2 缺陷与多种感染触发 HLH 的关系，强调了早期感染管理以降低死亡率。这项综合分析为临床医生和研究人员在诊断和管理这种罕见疾病方面提供了重要的见解，为科学知识做出了贡献。
