Article

WHIM Syndrome: Report of a Novel Familial CXCR4V340fs Gain-of-function Mutation with a Milder Phenotype

2023-11-14

Abstract excerpt

<title>Abstract</title> <p>WHIM syndrome is a rare, autosomal dominant inborn errors 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. Here, we report a Chinese family of four harboring a novel mutation in the C-terminal domain of <italic>CXCR4</italic> (c.101...

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Literature Corpus work: a6b68a28-a852-5c58-b537-fb196c32097a
DOI: 10.21203/rs.3.rs-3582625/v1

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