Associated Papers
Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.
Esmaeilzadeh H et al.
Bmc Immunology, 2025
Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.
Mallebranche C et al.
American Journal of Hematology, 2025
New insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort.
Santos LW et al.
Frontiers in Immunology, 2025
Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.
Gaikwad P et al.
Journal of Clinical Immunology, 2024
Tviblindi algorithm identifies branching developmental trajectories of human B-cell development and describes abnormalities in RAG-1 and WAS patients.
Bakardjieva M et al.
European Journal of Immunology, 2024
Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.
Zhao Q et al.
Journal of Autoimmunity, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.
Rayzan E et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.
Obydennyi SI et al.
British Journal of Haematology, 2023
Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.
Künstner A et al.
Haematologica, 2022
WASp modulates RPA function on single-stranded DNA in response to replication stress and DNA damage.
Han SS et al.
Nature Communications, 2022
Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing.
Yuan B et al.
Nature Communications, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
Deficiency of Wiskott-Aldrich syndrome protein has opposing effect on the pro-oncogenic pathway activation in nonmalignant versus malignant lymphocytes.
Han SS et al.
Oncogene, 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C et al.
Frontiers in Immunology, 2021
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.
Glanzmann B et al.
Bmc Medical Genetics, 2020
Screening for Wiskott-Aldrich syndrome by flow cytometry.
Chiang SCC et al.
The Journal of Allergy and Clinical Immunology, 2018
Eltrombopag use in a patient with Wiskott-Aldrich syndrome.
Gabelli M et al.
Pediatric Blood & Cancer, 2017
Abnormal distribution of distinct lymphocyte subsets in children with Wiskott-Aldrich syndrome.
Zhou L et al.
Human Immunology, 2017
Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.
Kolhatkar NS et al.
The Journal of Experimental Medicine, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
T-cell receptor diversity is selectively skewed in T-cell populations of patients with Wiskott-Aldrich syndrome.
Wu J et al.
The Journal of Allergy and Clinical Immunology, 2015
[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].
Liu N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.
Braun CJ et al.
Science Translational Medicine, 2014
Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.
Boonyawat B et al.
Journal of Clinical Immunology, 2013
Ubiquitylation-dependent negative regulation of WASp is essential for actin cytoskeleton dynamics.
Reicher B et al.
Molecular and Cellular Biology, 2012
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V et al.
Molecular Immunology, 2011
Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.
Lee WI et al.
Journal of Clinical Immunology, 2010
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
Rajmohan R et al.
Fems Yeast Research, 2009
Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan.
Lee WI et al.
International Archives of Allergy and Immunology, 2008
Novel membrane cell projection defects in Wiskott-Aldrich syndrome B cells.
Andreu N et al.
International Journal of Molecular Medicine, 2007
WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells.
Marangoni F et al.
The Journal of Experimental Medicine, 2007
Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.
Lutskiy MI et al.
Journal of Immunology (baltimore, Md. : 1950), 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
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression.
Allavena P et al.
European Journal of Immunology, 2001
Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Qasim W et al.
British Journal of Haematology, 2001
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
Fillat C et al.
American Journal of Medical Genetics, 2001
A complex of N-WASP and WIP integrates signalling cascades that lead to actin polymerization.
Moreau V et al.
Nature Cell Biology, 2000
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.
Rong SB et al.
Journal of Molecular Medicine (berlin, Germany), 2000
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
Lemahieu V et al.
Human Mutation, 1999
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
Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation.
Andreu N et al.
Blood Cells, Molecules & Diseases, 0
Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.
Chuong HQ et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0