Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study
IntroductionTalaromyces 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.Materials and methodsWe retrospectively reviewed 18 pedia...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1492000/full |
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| author | Huifeng Fan Zhiyong Yang Yuhui Wu Xiulan Lu Tian Li Xuyang Lu Gen Lu Liming He Guoping Lu Li Huang |
| author_facet | Huifeng Fan Zhiyong Yang Yuhui Wu Xiulan Lu Tian Li Xuyang Lu Gen Lu Liming He Guoping Lu Li Huang |
| author_sort | Huifeng Fan |
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| description | IntroductionTalaromyces 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.Materials and methodsWe retrospectively reviewed 18 pediatric patients with IEIs who were diagnosed with T. marneffei infections at five public hospitals in China from January 2015 to January 2023.ResultsThe common clinical features among 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 presented with pan-hypogammaglobulinemia, while three other cases showed heightened levels of IgM. Elevated levels of IgE were detected in five cases, and six cases exhibited decreased T lymphocyte absolute counts. Four children were diagnosed with hyperimmunoglobulin M syndrome (HIGM) due to CD40LG mutations, three cases had severe combined immunodeficiency (SCID), and five were diagnosed with hyper-IgE syndrome (HIES). Gain-of-function (GOF) mutations in STAT1 led to STAT1 GOF in four cases. One patient was diagnosed with caspase-recruitment domain (CARD9) deficiency due to a compound mutation in the CARD9 gene, while another patient was confirmed with adenosine deaminase (ADA) deficiency.ConclusionT. marneffei infections in children with IEIs induced severe systemic complications. These children commonly exhibited abnormal immunoglobulin levels in peripheral blood, and underlying IEIs associated with T. marneffei infections have enhanced our understanding of the disease. |
| format | Article |
| id | doaj-art-824aab44fb9346b4b0ea7bdc186a792c |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Immunology |
| spelling | doaj-art-824aab44fb9346b4b0ea7bdc186a792c2025-01-22T07:12:55ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-01-011610.3389/fimmu.2025.14920001492000Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort studyHuifeng Fan0Zhiyong Yang1Yuhui Wu2Xiulan Lu3Tian Li4Xuyang Lu5Gen Lu6Liming He7Guoping Lu8Li Huang9Department of Respiratory Infection, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatrics, The First Affiliated Hospital of Guangxi Medical University/Difficult and Critical Illness Center, Pediatric Clinical Medical Research Center of Guangxi, Nanning, ChinaPediatric Intensive Care Unit, Shenzhen Children’s Hospital, Shenzhen, Guangdong, ChinaDepartment of Pediatrics, Hunan Children’s Hospital, Changsha, ChinaPediatric Intensive Care Unit, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatrics, The First Affiliated Hospital of Guangxi Medical University/Difficult and Critical Illness Center, Pediatric Clinical Medical Research Center of Guangxi, Nanning, ChinaDepartment of Respiratory Infection, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaPediatric Intensive Care Unit, Children’s Hospital of Fudan University, Shanghai, ChinaPediatric Intensive Care Unit, Children’s Hospital of Fudan University, Shanghai, ChinaPediatric Emergency Department, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaIntroductionTalaromyces 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.Materials and methodsWe retrospectively reviewed 18 pediatric patients with IEIs who were diagnosed with T. marneffei infections at five public hospitals in China from January 2015 to January 2023.ResultsThe common clinical features among 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 presented with pan-hypogammaglobulinemia, while three other cases showed heightened levels of IgM. Elevated levels of IgE were detected in five cases, and six cases exhibited decreased T lymphocyte absolute counts. Four children were diagnosed with hyperimmunoglobulin M syndrome (HIGM) due to CD40LG mutations, three cases had severe combined immunodeficiency (SCID), and five were diagnosed with hyper-IgE syndrome (HIES). Gain-of-function (GOF) mutations in STAT1 led to STAT1 GOF in four cases. One patient was diagnosed with caspase-recruitment domain (CARD9) deficiency due to a compound mutation in the CARD9 gene, while another patient was confirmed with adenosine deaminase (ADA) deficiency.ConclusionT. marneffei infections in children with IEIs induced severe systemic complications. These children commonly exhibited abnormal immunoglobulin levels in peripheral blood, and underlying IEIs associated with T. marneffei infections have enhanced our understanding of the disease.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1492000/fullTalaromyces marneffeiinborn errors of immunityimmune statusgene mutationchildren |
| spellingShingle | Huifeng Fan Zhiyong Yang Yuhui Wu Xiulan Lu Tian Li Xuyang Lu Gen Lu Liming He Guoping Lu Li Huang Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study Frontiers in Immunology Talaromyces marneffei inborn errors of immunity immune status gene mutation children |
| title | Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study |
| title_full | Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study |
| title_fullStr | Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study |
| title_full_unstemmed | Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study |
| title_short | Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study |
| title_sort | human inborn errors of immunity underlying talaromyces marneffei infections a multicenter retrospective cohort study |
| topic | Talaromyces marneffei inborn errors of immunity immune status gene mutation children |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1492000/full |
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