A <i>WAS</i> promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
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.
Authors
- Sylvain Hanein (ORCID: https://orcid.org/0000-0001-5817-6330)
- Sandrine Baron‐Joly (ORCID: https://orcid.org/0009-0006-0932-1603)
- Arnaud Maillard (ORCID: https://orcid.org/0009-0002-6761-0164)
- Martin Broly (ORCID: https://orcid.org/0009-0005-4685-7063)
- Antoine Fayand (ORCID: https://orcid.org/0000-0003-2720-4970)
- Guilaine Boursier (ORCID: https://orcid.org/0000-0002-2903-3135)
- Christelle Lenoir (ORCID: https://orcid.org/0000-0002-9844-654X)
- Marie‐Gabrielle Vigue (ORCID: https://orcid.org/0009-0006-4966-2170)
- Jean‐Laurent Casanova (ORCID: https://orcid.org/0000-0002-7782-4169)
- Marjolaine Willems (ORCID: https://orcid.org/0000-0002-2959-0935)
- Jérémie Rosain (ORCID: https://orcid.org/0000-0002-2822-161X)
- Tom Le Voyer (ORCID: https://orcid.org/0000-0002-7253-3135)
- Frédéric Parisot (ORCID: https://orcid.org/0009-0002-4688-6209)
- Yoann Seeleuthner (ORCID: https://orcid.org/0000-0002-1878-8567)
- Carole E. Aubert (ORCID: https://orcid.org/0000-0001-8325-8784)
- Sylvain Latour (ORCID: https://orcid.org/0000-0001-8238-4391)
- Jana Pachlopnik Schmid (ORCID: https://orcid.org/0000-0002-6653-9047)
- Eva Maria Tinner (ORCID: https://orcid.org/0000-0001-5843-8097)
- Peng Zhang (ORCID: https://orcid.org/0000-0002-6129-567X)
- Nathalie Lambert (ORCID: https://orcid.org/0009-0001-1762-8641)
- Pauline Ober (ORCID: https://orcid.org/0009-0005-6068-5413)
- Iben El Missaoui
Institutions
- University of Bern (CH)
- Bern University of Applied Sciences (CH)
- Howard Hughes Medical Institute (US)
- Inserm (FR)
- Université de Montpellier (FR)
- University of Zurich (CH)
- Université Paris Cité (FR)
- University Hospital of Bern (CH)
- Université Paris Nanterre (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- University Hospital of Zurich (CH)
- University Children's Hospital Zurich (CH)
- Hôpital Saint-Louis (FR)
- Pediatrics and Genetics (US)
- Institut des Maladies Génétiques Imagine (FR)
- Université de Nîmes (FR)
- Rockefeller University (US)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2025-10-14
- DOI
- https://doi.org/10.70962/jhi.20250181
- Primary Topic
- Cellular Mechanics and Interactions
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Science Foundation
- St. Giles Foundation
- Fondation du Souffle
- Agence Nationale de la Recherche
- Institut National de la Santé et de la Recherche Médicale
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Fondation pour la Recherche Médicale
- Ligue Contre le Cancer
- Centre National de la Recherche Scientifique
- Institut National Du Cancer
- Universität Zürich