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

Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation.

British journal of haematology - 1 Sept 2006

Sanmun Duangmanee, Garwicz Daniel, Smith C I Edvard, Palmblad Jan, Fadeel Bengt

Abstract excerpt

Warts, hypogammaglobulinaemia, infections, myelokathexis (WHIM) syndrome is an inherited immune disorder associated with CXCR4 gene mutations. Recent studies suggested that impaired receptor downregulation and enhanced chemotactic responsiveness to stromal-derived factor-1 (SDF-1), the sole cognate ligand for CXCR4, may account for the characteristic features of WHIM patients. This study evaluated whether the...

Read the complete abstract on PubMed

Topics

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

Share to Agammaglobulinemia
Share to Chemokine CXCL12

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chemokines, CXC

Share to Immunologic Deficiency Syndromes

Share to Infections

Share to Neutrophils

Share to Receptors, CXCR4

Source

Identifiers

PMID: 16899028
DOI: 10.1111/j.1365-2141.2006.06240.x

Genes

CXCR4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Stromal-derived factor-1 abolishes constitutive apoptosis of WHIM syndrome neutrophils harbouring a truncating CXCR4 mutation.PMID 16899028Read ↗

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

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

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entitySemantic 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 ↗

Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.Semantic proximity Read ↗

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 ↗

CXCR4 dimerization and beta-arrestin-mediated signaling account for the enhanced chemotaxis to CXCL12 in WHIM syndrome.Semantic proximity Read ↗

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.Semantic proximity Read ↗

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

CXCR4-Specific Nanobodies as Potential Therapeutics for WHIM syndrome.Semantic proximity Read ↗

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