A congenital neutrophil defect syndrome associated with mutations in VPS45.

doi:10.1056/NEJMoa1301296

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Article

A congenital neutrophil defect syndrome associated with mutations in VPS45.

The New England journal of medicine - 4 Jul 2013

Vilboux Thierry, Lev Atar, Malicdan May Christine V, Simon Amos J, Järvinen Päivi, Racek Tomas, Puchalka Jacek, Sood Raman, Carrington Blake, Bishop Kevin, Mullikin James, Huizing Marjan, Garty Ben Zion, Eyal Eran, Wolach Baruch, Gavrieli Ronit, Toren Amos, Soudack Michalle, Atawneh Osama M, Babushkin Tatiana, Schiby Ginette, Cullinane Andrew, Avivi Camila, Polak-Charcon Sylvie, Barshack Iris, Amariglio Ninette, Rechavi Gideon, van der Werff ten Bosch Jutte, Anikster Yair, Klein Christoph, Gahl William A, Somech Raz

Abstract excerpt

BACKGROUND: Neutrophils are the predominant phagocytes that provide protection against bacterial and fungal infections. Genetically determined neutrophil disorders confer a predisposition to severe infections and reveal novel mechanisms that control vesicular trafficking, hematopoiesis, and innate immunity. METHODS: We clinically evaluated seven children from five families who had neutropenia, neutrophil...

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Identifiers

PMID: 23738510
DOI: 10.1056/NEJMoa1301296
PMCID: PMC3787600

Genes

VPS45

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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A congenital neutrophil defect syndrome associated with mutations in VPS45.PMID 23738510Read ↗

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Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.Semantic proximity Read ↗

Mutations in <i>VPS18</i> lead to a neutrophil maturation defect associated with disturbed vesicle homeostasisSemantic proximity Read ↗

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