A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds [research letter].

DOI
Publisher DOI
PubMed ID
41333711
Abstract
We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with features of Wiskott-Aldrich syndrome.
Date Issued
2026-01-05
Publication Type
Article
Language(s)
en
Author(s)
Ober, Pauline
Lenoir, Christelle
Maillard, Arnaud
Vigue, Marie-Gabrielle
Willems, Marjolaine
Baron-Joly, Sandrine
Tinner, Eva Maria
Lambert, Nathalie
El Missaoui, Iben
Parisot, Frédéric
Fayand, Antoine
Seeleuthner, Yoann
Hanein, Sylvain
Le Voyer, Tom
Broly, Martin
Boursier, Guilaine
Casanova, Jean-Laurent
Zhang, Peng
Pachlopnik Schmid, Jana
Latour, Sylvain
Rosain, Jérémie
Additional Credits
Journal
Journal of Human Immunity
Publisher
Rockefeller University Press
ISSN
3065-8993
Access(Rights)
open.access
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