Zhang Fan, Zhu Xiaohua, Yang Jiaxue
Department of Respiratory, Jiangxi Provincial Children's Hospital, Nanchang University, Nanchang, Jiangxi, 330000, China.
Department of Oncology, Yangxin People's Hospital, Yangxin, Hubei, 435200, China.
Respir Med Case Rep. 2025 Jul 30;57:102275. doi: 10.1016/j.rmcr.2025.102275. eCollection 2025.
Talaromyces marneffei (TM) is an opportunistic pathogenic fungus, primarily reported in patients with congenital immune deficiencies. STAT3, a key molecule involved in fungal immune surveillance, plays a critical role in defense against fungal infections. Mutations in the STAT3 gene are associated with increased susceptibility to such infections.
An 11-month-old girl was admitted to our hospital with a 3-month history of recurrent coughing and wheezing and a recent 3-day history of hoarseness. Next-generation sequencing (NGS) and microbial culture of bronchoalveolar lavage fluid (BALF) samples confirmed a TM infection. Bronchoscopy revealed the presence of white pseudomembranous secretions. Whole-exome sequencing identified a novel mutation in the STAT3 gene. Following administration of amphotericin B antifungal therapy, the patient's clinical symptoms significantly improved.
In children with recurrent lung infections that are refractory to treatment, along with elevated IgE levels, clinicians should consider the possibility of underlying immunodeficiency and TM infection. NGS analysis of bronchoalveolar lavage fluid (BALF) is valuable for early diagnosis.
马尔尼菲篮状菌（TM）是一种机会致病性真菌，主要在先天性免疫缺陷患者中报道。信号转导和转录激活因子3（STAT3）是参与真菌免疫监测的关键分子，在抵御真菌感染中起关键作用。STAT3基因突变与此类感染的易感性增加有关。
一名11个月大的女孩因反复咳嗽和喘息3个月以及最近3天声音嘶哑入院。支气管肺泡灌洗液（BALF）样本的二代测序（NGS）和微生物培养证实为TM感染。支气管镜检查发现有白色假膜性分泌物。全外显子测序在STAT3基因中发现了一个新突变。给予两性霉素B抗真菌治疗后，患者的临床症状明显改善。
对于反复肺部感染且治疗难治、IgE水平升高的儿童，临床医生应考虑潜在免疫缺陷和TM感染的可能性。支气管肺泡灌洗液（BALF）的NGS分析对早期诊断有价值。
