CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report

BACKGROUND: D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. CASE PRESENTATION: We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.Tyr172Ter) X-linked hyper-IgM syn...

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Detalles Bibliográficos
Autores principales: Xu, Hong-bo, Tian, Mao-qiang, Bai, Yong-hua, Ran, Xiao, Li, Lei, Chen, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182603/
https://www.ncbi.nlm.nih.gov/pubmed/37173671
http://dx.doi.org/10.1186/s12887-023-04054-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182603/
https://www.ncbi.nlm.nih.gov/pubmed/37173671
http://dx.doi.org/10.1186/s12887-023-04054-6

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