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Article

[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration].

Revue des maladies respiratoires - 1 May 2008

Vinurel H, Freymond N, Pacheco Y, Devouassoux G

Abstract excerpt

Whim syndrome, an association of warts, hypogammaglobulinemia, recurrent bacterial infections and the retention of mature polymorphonuclear cells within the bone marrow is an orphan disease. It occurs due to a complex immune defect, mutation and/ or dysfunction of CXCR4, the natural receptor of stromal cell-derived factor 1 [SDF-1 or CXCL12], which is implicated in the control of bone marrow homing of precursor...

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

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Source

Identifiers

PMID: 18535531
DOI: 10.1016/s0761-8425(08)71621-8

Genes

CXCR4
CXCL12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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[The Whim syndrome: a rare cause of diffuse bronchiectasis. Immune defect of CXCR4 and chronic bronchial suppuration].PMID 18535531Read ↗

Clinical and genetic features of Warts, Hypogammaglobulinemia, Infections and Myelokathexis (WHIM) syndrome.Semantic proximity Read ↗

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 ↗

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

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

Genetics on a <scp>WHIM</scp>Semantic proximity Read ↗

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

CXCR4: from B-cell development to B cell–mediated diseasesSemantic proximity Read ↗

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia RegistrySemantic proximity Read ↗

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

[Late diagnosis of WHIM sydrome].Semantic proximity Read ↗

Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.Semantic proximity Read ↗

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