Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation

BackgroundWHIM syndrome is a rare, autosomal dominant inborn error of immunity characterized by warts, hypogammaglobulinemia, infection, and myelokathexis. It is caused mainly by heterozygous mutations at the C-terminus of the C-X-C chemokine receptor type 4 (CXCR4) gene.MethodsWe described the deta...

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Bibliographic Details
Main Authors: Yu Huang, Lu Li, Ran Chen, Lang Yu, Shunkai Zhao, Yanjun Jia, Ying Dou, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao, Lina Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-11-01
Series:Frontiers in Immunology
Subjects:
CXCR4 variant
gain-of-function
inborn error of immunity
WHIM syndrome
heterogeneous phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1460990/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2024.1460990/full

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