Cargando…
Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China
BACKGROUND: X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency syndrome caused by mutations in the CD40 ligand gene(CD40LG), presents with recurrent respiratory infections in pediatric patients. We aimed to evaluate the spectrum of clinical features and respiratory pathogens in pedi...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682706/ https://www.ncbi.nlm.nih.gov/pubmed/36419145 http://dx.doi.org/10.1186/s12887-022-03726-z |
_version_ | 1784834910539743232 |
---|---|
author | Fan, Huifeng Huang, Li Yang, Diyuan Zhang, Changhao Zeng, Qiang Yin, Genquan Lu, Gen Shen, Kunling |
author_facet | Fan, Huifeng Huang, Li Yang, Diyuan Zhang, Changhao Zeng, Qiang Yin, Genquan Lu, Gen Shen, Kunling |
author_sort | Fan, Huifeng |
collection | PubMed |
description | BACKGROUND: X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency syndrome caused by mutations in the CD40 ligand gene(CD40LG), presents with recurrent respiratory infections in pediatric patients. We aimed to evaluate the spectrum of clinical features and respiratory pathogens in pediatric patients with XHIGM in China. METHODS: We retrospectively reviewed seven pediatric patients who were diagnosed with XHIGM and received follow-up treatment at the Guangzhou Women and Children’s Medical Center between January 2010 and January 2021. We determined their clinical characteristics, causative pathogens, and prognosis by performing peripheral immunological and genetic tests. RESULTS: There were seven boys with age ranging from 4–20 months (median age, 13 months). Four of the seven respiratory infections were caused by Talaromyces marneffei(T. marneffei). Two patients had viral infections caused by cytomegalovirus (CMV) and human adenovirus respectively. One patient had a mixed infection caused by Pneumocystis carinii and CMV. Except for one child who died of respiratory failure, one patient received hematopoietic stem cell transplantation (HSCT) and recovered well, the other five patients survived with regular infusions of intravenous immunoglobulin (IVIg) during the follow-up period. Six patients had reduced antibody levels, especially IgG, IgA, and IgE levels. Increased serum IgM levels were detected in four cases, and three cases presented normal IgM levels at onset. All children were diagnosed with XHIGM with CD40LG variation. Three novel mutations were identified in the present study. CONCLUSIONS: Our study suggests that respiratory infections usually begin within 2 years old, fungi and viruses are important pathogens causing respiratory infections in children with XHIGM. In endemic areas, T. marneffei is the common pathogen of respiratory tract infection in children with the disease. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12887-022-03726-z. |
format | Online Article Text |
id | pubmed-9682706 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-96827062022-11-24 Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China Fan, Huifeng Huang, Li Yang, Diyuan Zhang, Changhao Zeng, Qiang Yin, Genquan Lu, Gen Shen, Kunling BMC Pediatr Research BACKGROUND: X-linked hyper-immunoglobulin M (XHIGM), a primary immunodeficiency syndrome caused by mutations in the CD40 ligand gene(CD40LG), presents with recurrent respiratory infections in pediatric patients. We aimed to evaluate the spectrum of clinical features and respiratory pathogens in pediatric patients with XHIGM in China. METHODS: We retrospectively reviewed seven pediatric patients who were diagnosed with XHIGM and received follow-up treatment at the Guangzhou Women and Children’s Medical Center between January 2010 and January 2021. We determined their clinical characteristics, causative pathogens, and prognosis by performing peripheral immunological and genetic tests. RESULTS: There were seven boys with age ranging from 4–20 months (median age, 13 months). Four of the seven respiratory infections were caused by Talaromyces marneffei(T. marneffei). Two patients had viral infections caused by cytomegalovirus (CMV) and human adenovirus respectively. One patient had a mixed infection caused by Pneumocystis carinii and CMV. Except for one child who died of respiratory failure, one patient received hematopoietic stem cell transplantation (HSCT) and recovered well, the other five patients survived with regular infusions of intravenous immunoglobulin (IVIg) during the follow-up period. Six patients had reduced antibody levels, especially IgG, IgA, and IgE levels. Increased serum IgM levels were detected in four cases, and three cases presented normal IgM levels at onset. All children were diagnosed with XHIGM with CD40LG variation. Three novel mutations were identified in the present study. CONCLUSIONS: Our study suggests that respiratory infections usually begin within 2 years old, fungi and viruses are important pathogens causing respiratory infections in children with XHIGM. In endemic areas, T. marneffei is the common pathogen of respiratory tract infection in children with the disease. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12887-022-03726-z. BioMed Central 2022-11-22 /pmc/articles/PMC9682706/ /pubmed/36419145 http://dx.doi.org/10.1186/s12887-022-03726-z Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Fan, Huifeng Huang, Li Yang, Diyuan Zhang, Changhao Zeng, Qiang Yin, Genquan Lu, Gen Shen, Kunling Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China |
title | Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China |
title_full | Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China |
title_fullStr | Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China |
title_full_unstemmed | Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China |
title_short | Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China |
title_sort | respiratory infections in x-linked hyper-igm syndrome with cd40lg mutation: a case series of seven children in china |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682706/ https://www.ncbi.nlm.nih.gov/pubmed/36419145 http://dx.doi.org/10.1186/s12887-022-03726-z |
work_keys_str_mv | AT fanhuifeng respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina AT huangli respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina AT yangdiyuan respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina AT zhangchanghao respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina AT zengqiang respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina AT yingenquan respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina AT lugen respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina AT shenkunling respiratoryinfectionsinxlinkedhyperigmsyndromewithcd40lgmutationacaseseriesofsevenchildreninchina |