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

Year: 2026

Type: article

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.

Source: Open Access CRIS of the University of Bern

DOI: 10.48620/92713

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, Seeleuthner, Yoann, Hanein, Sylvain, Le Voyer, Tom, Broly, Martin, Boursier, Guilaine, Casanova, Jean-Laurent, Zhang, Peng, Pachlopnik Schmid, Jana, Latour, Sylvain, Rosain, Jérémie

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7107955192

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