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Article

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.

Blood advances - 27 Sept 2022

Marx David, Dupuis Arnaud, Eckly Anita, Molitor Anne, Olagne Jérôme, Touchard Guy, Kaaki Sihem, Ory Cécile, Faller Anne-Laure, Gérard Bénédicte, Cotter Melanie, Westerberg Lisa, Keszei Marton, Moulin Bruno, Gachet Christian, Caillard Sophie, Bahram Seiamak, Carapito Raphaël

Abstract excerpt

While loss-of-function variants in the WAS gene are associated with Wiskott-Aldrich syndrome and lead to microthrombocytopenia, gain-of-function variants of WAS are associated with X-linked neutropenia (XLN) and the absence of microthrombocytopenia. Only a few XLN families have been reported so far, and their platelet phenotype was not described in detail. To date, no renal involvement was described in XLN. In...

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Identifiers

PMID: 35404999
DOI: 10.1182/bloodadvances.2021006789
PMCID: PMC9631694

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.

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