GATA2转录因子基因的生殖系致病性突变（PVs）可能会导致单核细胞、树突状细胞、自然杀伤细胞和B细胞的显著减少。GATA2 PVs与髓系肿瘤的风险增加以及非结核分枝杆菌和人类乳头状瘤病毒感染的易感性有关。此外，在没有髓系肿瘤的情况下，有报道称患有GATA2 PVs的个体出现侵袭性真菌感染（IFIs）。在本报告中，我们介绍一个40岁男性Emberger综合征病例（GATA2突变，最近被诊断为急性髓细胞白血病[AML]且有淋巴水肿和听力损失史），他在接受第一次缓解诱导化疗时发生了黏液霉菌窦炎。另外，我们回顾了所有已发表的GATA2 PVs患者中经证实的IFIs病例。临床医生应该意识到，在没有AML和抗肿瘤治疗的情况下，患有GATA2 PVs的患者可能易于感染机会性IFIs。此外，我们患者在AML缓解诱导化疗的第一疗程中发生的黏液菌病毒感染的非常罕见情况表明，接受AML缓解诱导化疗的患有生殖系GATA2 PVs的患者可能存在早期感染机会性真菌的高风险。© 2023 Wiley-VCH GmbH. 由John Wiley & Sons Ltd.出版。

Germline pathogenic variants (PVs) in the gene encoding the GATA2 transcription factor can result in profound reductions of monocytes, dendritic cells, natural killer cells and B cells. GATA2 PVs are associated with an increased risk of myeloid malignancies and a predisposition to nontuberculous mycobacterial and human papillomavirus infections. Additionally, invasive fungal infections (IFIs) have been reported in individuals with GATA2 PVs, even in the absence of myeloid malignancies. In this report, we present the case of a 40-year-old man with Emberger syndrome (GATA2 mutation, recently diagnosed acute myeloid leukaemia [AML] and history of lymphedema with hearing loss) who developed Mucorales sinusitis while receiving his first course of remission induction chemotherapy. Additionally, we review the literature on all published cases of proven IFIs in patients with GATA2 PVs. Clinicians should be aware that patients with GATA2 PVs could be vulnerable to opportunistic IFIs, even in the absence of AML and antineoplastic therapy. Furthermore, the distinctly unusual occurrence of mucormycosis during the first course of induction chemotherapy for AML in our patient indicates that patients with germline GATA2 PVs receiving induction chemotherapy for AML might be at high risk for early onset of IFIs due to aggressive, opportunistic moulds.© 2023 Wiley-VCH GmbH. Published by John Wiley & Sons Ltd.