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Article

Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.

Frontiers in immunology - 1 Jan 2024

Zmajkovicova Katarina, Nykamp Keith, Blair Grace, Yilmaz Melis, Walter Jolan E

Abstract excerpt

Warts, Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) syndrome is a rare, combined immunodeficiency disease predominantly caused by gain-of-function variants in the CXCR4 gene that typically results in truncation of the carboxyl terminus of C-X-C chemokine receptor type 4 (CXCR4) leading to impaired leukocyte egress from bone marrow to peripheral blood. Diagnosis of WHIM syndrome continues to be...

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Share to CXCR4 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39040098
DOI: 10.3389/fimmu.2024.1411141
PMCID: PMC11260667

Genes

CXCR4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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