A novel CD40LG mutation causing X‑linked hyper-IgM syndrome

A novel CD40LG mutation causing X‑linked hyper-IgM syndrome

X-linked hyper-IgM (X-HIGM), which results from mutations of the CD40 ligand gene (CD40LG) located on chromosome Xq26.3, is characterized by a defective T-B lymphocyte cross talk and class switch recombination (CSR). The present study aimed to evaluate the expression of CD40L and lymphocyte subsets...

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Bibliographic Details
Main Authors: Xuejing Li, Yungai Cheng, Dan Xu, Beilei Cheng, Yingchun Xu, Zhimin Chen, Lanfang Tang, Yingshuo Wang
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-09-01
Series:Global Medical Genetics
Subjects:
X-HIGM
CD40L
Flow cytometry
Lymphocyte subsets
WES
Online Access:http://www.sciencedirect.com/science/article/pii/S2699940424000079
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http://www.sciencedirect.com/science/article/pii/S2699940424000079

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