Article
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Blood - 13 Jun 2024
Vallée Tanja C, Glasmacher Jannik S, Buchner Hannes, Arkwright Peter D, Behrends Uta, Bondarenko Anastasia, Browning Michael J, Buchbinder David, Cattoni Alessandro, Chernyshova Liudmyla, Ciznar Peter, Cole Theresa, Czogała Wojciech, Dueckers Gregor, Edgar John David M, Erbey Fatih, Fasth Anders, Ferrua Francesca, Formankova Renata, Gambineri Eleonora, Gennery Andrew R, Goldman Frederick D, Gonzalez-Granado Luis I, Heilmann Carsten, Heiskanen-Kosma Tarja, Juntti Hanna, Kainulainen Leena, Kanegane Hirokazu, Karaca Neslihan E, Kilic Sara S, Klein Christoph, Kołtan Sylwia, Kondratenko Irina, Meyts Isabelle, Nasrullayeva Gulnara M, Notarangelo Lucia D, Pasic Srdjan, Pellier Isabelle, Pignata Claudio, Misbah Siraj, Schulz Ansgar, Segundo Gesmar R, Shcherbina Anna, Slatter Mary, Sokolic Robert, Soler-Palacin Pere, Stepensky Polina, van Montfrans Joris M, Ryhänen Samppa, Wolska-Kuśnierz Beata, Ziegler John B, Zhao Xiaodong, Aiuti Alessandro, Ochs Hans D, Albert Michael H
Abstract excerpt
ABSTRACT: Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries...
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