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ORIGINAL RESEARCH article

Front. Immunol.
Sec. Primary Immunodeficiencies
Volume 16 - 2025 | doi: 10.3389/fimmu.2025.1492000

Human Inborn errors of immunity underlying Talaromyces marneffei infections: A Multicenter, Retrospective, Cohort Study

Provisionally accepted
Huifeng Fan Huifeng Fan 1Zhiyong Yang Zhiyong Yang 2Yuhui WU Yuhui WU 3Xiulan Lu Xiulan Lu 4Tian Li Tian Li 1Xuyang Lu Xuyang Lu 2Gen Lu Gen Lu 1Liming He Liming He 5Guoping Lu Guoping Lu 5*Li Huang Li Huang 1*
  • 1 Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
  • 2 First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi Zhuang Region, China
  • 3 Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China
  • 4 Hunan Children's Hospital, Changsha, Hunan Province, China
  • 5 Children's Hospital, Fudan University, Shanghai, Shanghai Municipality, China

The final, formatted version of the article will be published soon.

    Introduction Talaromyces marneffei(T. marneffei) infections in children can occur secondary to Inborn errors of immunity(IEIs), we aimed to investigate the clinical and genetic features of T. marneffei infection in Chinese pediatric patients.We retrospectively reviewed 18 pediatric IEIs patients who were diagnosed with T. marneffei infections at the five public hospitals in China from January 2015 to January 2023.The common clinical features of the patients were fever, cough and hepatomegaly. The most common severe complications included septic shock, hemophagocytic lymphohistiocytosis (HLH) and acute respiratory distress syndrome (ARDS). Three cases performed Pan-hypogammaglobulinemia, another three cases presented heightened levels of IgM. The higher levels of IgE were detected in five cases. There were six cases displayed decreased T-lymphocyte absolute counts. There were four children confirmed hyper immunoglobulin M syndrome (HIGM) with CD40LG variation, three cases with severe combined immunodeficiency (SCID), and five with hyper-IgE syndrome (HIES). Gain-of-function (GOF) mutations in STAT1 led to STAT1 GOF in four cases. One patient was identified as caspase-recruitment domain (CARD9) deficiency with a compound mutation in CARD9 gene, while another patient was confirmed with Adenosine deaminase (ADA) deficiency.T. marneffei infections in IEIs children induced severe systemic complications. The IEIs children with T. marneffei infections commonly showed abnormal immunoglobulin levels in peripheral blood, and IEIs underlying T. marneffei infections have enhanced our comprehension of the disease.

    Keywords: Talaromyces marneffei, inborn errors of immunity, immune status, gene mutation, Children

    Received: 06 Sep 2024; Accepted: 07 Jan 2025.

    Copyright: © 2025 Fan, Yang, WU, Lu, Li, Lu, Lu, He, Lu and Huang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Guoping Lu, Children's Hospital, Fudan University, Shanghai, 201102, Shanghai Municipality, China
    Li Huang, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

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