Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12

9 Nov 2004

Abstract excerpt

The WHIM syndrome is a rare immunodeficiency disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis. Dominant heterozygous mutations of the gene encoding CXCR4, a G-protein-coupled receptor with a unique ligand, CXCL12, have been associated with this pathology. We studied patients belonging to 3 different pedigrees. Two siblings inherited a CXCR4 mutation encoding a novel...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chemokine receptors and signaling
Share to Immune Cell Function and Interaction
Share to Immunotherapy and Immune Responses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 15536153
DOI: 10.1182/blood-2004-06-2289

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12PMID 15536153Read ↗

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 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in 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 ↗

Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variantsSemantic proximity Read ↗

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

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

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

WHIM Syndrome: Report of a Novel Familial CXCR4V340fs Gain-of-function Mutation with a Milder PhenotypeSemantic proximity Read ↗

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.