Associated Papers
Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.
Hsu AP
Clinical and Experimental Immunology, 2023
Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari HP et al.
Indian Journal of Pediatrics, 2022
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.
Oshima K et al.
Journal of Clinical Immunology, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
Albert MH et al.
Blood, 2010
The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.
Moratto D et al.
Expert Review of Clinical Immunology, 2007
Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.
Wada T et al.
Blood, 2005
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
Jin Y et al.
Blood, 2004
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
Devriendt K et al.
Nature Genetics, 2001
Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.
Kim AS et al.
Nature, 2000
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
Schindelhauer D et al.
Human Genetics, 1996
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
Zhu Q et al.
Blood, 1995
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