The complex nature of CXCR4 mutations in WHIM syndrome

The complex nature of CXCR4 mutations in WHIM syndrome

Heterozygous autosomal dominant mutations in the CXCR4 gene cause WHIM syndrome, a severe combined immunodeficiency disorder. The mutations primarily affect the C-terminal region of the CXCR4 chemokine receptor, specifically several potential phosphorylation sites critical for agonist (CXCL12)-media...

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Bibliographic Details
Main Authors: José Miguel Rodríguez-Frade, Luis Ignacio González-Granado, César A. Santiago, Mario Mellado
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-07-01
Series:Frontiers in Immunology
Subjects:
CXCR4
CXCL12
WHIM syndrome
receptor conformations
signaling pathways
β-arrestins
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1406532/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2024.1406532/full

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