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

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.

European journal of haematology - 1 Jan 2007

Alapi Krisztina, Erdos Melinda, Kovács Gabriella, Maródi László

Abstract excerpt

WHIM (warts-hypogammaglobulinemia-infections-myelokathexis) syndrome is a recently described primary immunodeficiency disorder caused by mutation of the CXCR4 chemokine receptor gene. We report here of a 6.5-yr-old girl with bacterial infections, severe chronic neutropenia, and hypogammaglobulinemia. Sequencing the CXCR4 gene revealed a c.1013C > G sequence variant suggesting WHIM syndrome. Recurrent c.1013C > G...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to Heterozygote
Share to Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptors, CXCR4

Share to Recurrence

Share to Sequence Deletion

Share to Syndrome

Source

Identifiers

PMID: 17087743
DOI: 10.1111/j.1600-0609.2006.00779.x

Genes

CXCR4

Variants

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

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.PMID 17087743Read ↗

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

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

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

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

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

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

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

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

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

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

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

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

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