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Article

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.

British journal of haematology - 1 Jan 2009

Beel Karolien, Cotter Melanie M, Blatny Jan, Bond Jonathan, Lucas Geoff, Green Frances, Vanduppen Vik, Leung Daisy W, Rooney Sean, Smith Owen P, Rosen Michael K, Vandenberghe Peter

Abstract excerpt

X-linked neutropenia (XLN, OMIM #300299) is a rare form of severe congenital neutropenia. It was originally described in a three-generation family with five affected members that had an L270P mutation in the GTP-ase binding domain (GBD) of the Wiskott-Aldrich syndrome protein (WASP) [Devriendt et...

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Identifiers

PMID: 19006568
DOI: 10.1111/j.1365-2141.2008.07416.x
PMCID: PMC3125974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19006568-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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