Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.

ABSTRACT:

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).

SUBMITTER: Fan H 

PROVIDER: S-EPMC9682706 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature