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

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

Abstract 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-...

Full description

Bibliographic Details
Main Authors: Hong-bo Xu, Mao-qiang Tian, Yong-hua Bai, Xiao Ran, Lei Li, Yan Chen
Format: Article
Language:English
Published: BMC 2023-05-01
Series:BMC Pediatrics
Subjects:
CD40LG gene
X-linked hyper-IgM syndrome
Pulmonary alveolar proteinosis
Pediatrics
Case report
Online Access:https://doi.org/10.1186/s12887-023-04054-6

Similar Items

Similar Items