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已发表论文
一例 HIV 阴性婴儿因马尔尼菲篮状菌反复感染而确诊 X 连锁高 IgM 综合征：诊断与治疗的挑战
Authors Li W, Yang S, Yuan K , Lu H, Lin T, Luo Y, Xian L, Shan H, Zhang J
Received 1 August 2025
Accepted for publication 15 December 2025
Published 19 December 2025 Volume 2025:18 Pages 6757—6762
DOI https://doi.org/10.2147/IDR.S557554
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Alberto Ospina Stella
Wenmin Li,1 Shuyi Yang,1 Kaixuan Yuan,1 Huiqiong Lu,1 Ting Lin,1 Yanfei Luo,1 Luhua Xian,1 Huizhuang Shan,1 Jiang Zhang2
1Laboratory Department, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510180, People’s Republic of China; 2Department of Laboratory Medicine, First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510080, People’s Republic of China
Correspondence: Jiang Zhang, Email 15874109155@163.com
Abstract: Talaromyces marneffei (TM), a temperature-dependent dimorphic fungus and opportunistic pathogen, poses a significant threat to immunocompromised individuals, particularly in Southeast Asian regions such as China and India. This case report details an 8-month-old HIV negative Chinese infant with recurrent cough and fever, who was diagnosed with TM infection through blood culture and metagenomic next-generation sequencing (mNGS). Additionally, whole exome sequencing identified a point mutation (c.346+1G>T) in the child’s CD40LG gene, primary immunodeficiency calized to chromosome position chrX:135736590, leading to X-linked Hyper IgM Syndrome (XHIGM). The patient was managed with intravenous immunoglobulin (IVIG) and a 12-day course of amphotericin B and itraconazole, which led to significant clinical improvement and discharge on a quarterly IVIG regimen. However, he required readmission for recurrent TM pneumonia at 9 and 40 months post-discharge. This case highlights the diagnostic challenge and management complexity of TM infection in the context of primary immunodeficiency.
Keywords: Talaromyces marneffei, X-linked hyper IgM syndrome, immunocompromised individuals, mNGS, primary immunodeficiency
1Laboratory Department, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510180, People’s Republic of China; 2Department of Laboratory Medicine, First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510080, People’s Republic of China
Correspondence: Jiang Zhang, Email 15874109155@163.com
Abstract: Talaromyces marneffei (TM), a temperature-dependent dimorphic fungus and opportunistic pathogen, poses a significant threat to immunocompromised individuals, particularly in Southeast Asian regions such as China and India. This case report details an 8-month-old HIV negative Chinese infant with recurrent cough and fever, who was diagnosed with TM infection through blood culture and metagenomic next-generation sequencing (mNGS). Additionally, whole exome sequencing identified a point mutation (c.346+1G>T) in the child’s CD40LG gene, primary immunodeficiency calized to chromosome position chrX:135736590, leading to X-linked Hyper IgM Syndrome (XHIGM). The patient was managed with intravenous immunoglobulin (IVIG) and a 12-day course of amphotericin B and itraconazole, which led to significant clinical improvement and discharge on a quarterly IVIG regimen. However, he required readmission for recurrent TM pneumonia at 9 and 40 months post-discharge. This case highlights the diagnostic challenge and management complexity of TM infection in the context of primary immunodeficiency.
Keywords: Talaromyces marneffei, X-linked hyper IgM syndrome, immunocompromised individuals, mNGS, primary immunodeficiency