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

Open Access CRIS of the University of Bern 2026 Open access

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Authors: Ober, Pauline, Lenoir, Christelle, Maillard, Arnaud, Vigue, Marie-Gabrielle, Willems, Marjolaine, Baron-Joly, Sandrine, Aubert, Carole E., Tinner, Eva Maria, Lambert, Nathalie, El Missaoui, Iben, Parisot, Frédéric, Fayand, Antoine
+10 more Seeleuthner, Yoann, Hanein, Sylvain, Le Voyer, Tom, Broly, Martin, Boursier, Guilaine, Casanova, Jean-Laurent, Zhang, Peng, Pachlopnik Schmid, Jana, Latour, Sylvain, Rosain, Jérémie
DOI: 10.48620/92713
Cited by: 0

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.

Fields of Study & Subjects

Cellular Mechanics and Interactions Cell Adhesion Molecules Research Genomics and Rare Diseases

Publication details

Journal / source
Open Access CRIS of the University of Bern
Publication date
5 January 2026
Language
EN