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Article

The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse.

Blood - 1 Aug 2013

Kallikourdis Marinos, Trovato Anna Elisa, Anselmi Fabio, Sarukhan Adelaida, Roselli Giuliana, Tassone Laura, Badolato Raffaele, Viola Antonella

Abstract excerpt

WHIM (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome is a rare disease characterized by diverse symptoms indicative of aberrantly functioning immunity. It is caused by mutations in the chemokine receptor CXCR4, which impair its intracellular trafficking, leading to increased re...

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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: 23794067
DOI: 10.1182/blood-2012-10-461830
PMCID: PMC3731928

Genes

CXCR4
APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23794067-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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The CXCR4 mutations in WHIM syndrome impair the stability of the T-cell immunologic synapse.PMID 23794067Read ↗

CXCL12/CXCR4-Axis Dysfunctions: Markers of the Rare Immunodeficiency Disorder WHIM SyndromeSemantic proximity Read ↗

CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome.Semantic proximity Read ↗

CXCR4 antagonism restores dendritic cell migration and activation in a WHIM syndrome mouse modelSemantic proximity Read ↗

Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.Semantic proximity Read ↗

CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.Semantic proximity Read ↗

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12Semantic proximity Read ↗

CXCR4 mutations in WHIM syndrome: a misguided immune system?Semantic proximity Read ↗

The complex nature of CXCR4 mutations in WHIM syndrome.Semantic proximity Read ↗

WHIM syndrome: a genetic disorder of leukocyte trafficking.Semantic proximity Read ↗

WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.Semantic proximity Read ↗

Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients.Semantic proximity Read ↗

Increased Susceptibility of WHIM Mice to Papillomavirus-induced Disease is Dependent upon Immune Cell DysfunctionSemantic proximity Read ↗

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