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Article

Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.

Blood advances - 8 Oct 2024

Garcia-Carmona Yolanda, Chavez Jose, Gernez Yael, Geyer Julia T, Bussel James B, Cunningham-Rundles Charlotte

Abstract excerpt

ABSTRACT: WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a rare primary immunodeficiency predominantly caused by heterozygous gain-of-function mutations in the C-terminus of the gene CXCR4. These CXCR4 variants display impaired receptor trafficking with persistence of the CXCR4 receptor on the surface, resulting in hyperactive downstream signaling after CXCL12 stimulation. In turn,...

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Topics

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Share to Autoimmunity
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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: 39028950
DOI: 10.1182/bloodadvances.2024013301
PMCID: PMC11460441

Genes

CXCR4
CXCL12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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