A promoter variant underlying Wiskott-Aldrich syndrome in two kindreds.
Ober P,Lenoir C,Maillard A,Vigue M,Willems M,Baron-Joly S,Aubert C,Tinner E,Lambert N,El Missaoui I,Parisot F,Fayand A,Seeleuthner Y,Hanein S,Le Voyer T,Broly M,Boursier G,Casanova J,Zhang P,Schmid J,Latour S,Rosain J
Source :
2025 Oct 30
Pmid / DOI:
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.KEYWORDSInborn error of immunity, genetics, non-coding variants, promoter