Discover Community Create You

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

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.

Nature genetics - 1 May 2003

Hernandez Paolo A, Gorlin Robert J, Lukens John N, Taniuchi Shoichiro, Bohinjec Joze, Francois Fleur, Klotman Mary E, Diaz George A

Abstract excerpt

WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions, suggesting that...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to B-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium Signaling

Share to Chromosomes, Human, Pair 2

Share to Immunologic Deficiency Syndromes

Share to Neutropenia

Share to Receptors, CXCR4

Source

Identifiers

PMID: 12692554
DOI: 10.1038/ng1149

Genes

CXCR4

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.PMID 12692554Read ↗

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

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

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

WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).Semantic proximity Read ↗

Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.Semantic proximity Read ↗

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

WHIM syndrome: congenital immune deficiency disease.Semantic proximity Read ↗

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

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

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

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