Associated Papers
Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.
Mallebranche C et al.
American Journal of Hematology, 2025
Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET).
Soresina A et al.
Eclinicalmedicine, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Understanding immunoactinopathies: A decade of research on WAS gene defects.
Vieira RC et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 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
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Dasouki M et al.
Clinical and Experimental Immunology, 2020
Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.
Sereni L et al.
The Journal of Allergy and Clinical Immunology, 2019
Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study.
Ferrua F et al.
The Lancet. Haematology, 2019
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Successful Reduced Intensity Conditioning Alternate Donor Stem Cell Transplant for Wiskott-Aldrich Syndrome.
Thakkar D et al.
Journal of Pediatric Hematology/oncology, 2017
The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.
Lee WI et al.
Annals of Medicine, 2016
B-cell reconstitution after lentiviral vector-mediated gene therapy in patients with Wiskott-Aldrich syndrome.
Castiello MC et al.
The Journal of Allergy and Clinical Immunology, 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
X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.
Jain N et al.
Journal of Biomedical Science, 2014
[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
[Current status and future prospects of stem cell gene therapy for primary immunodeficiency].
Uchiyama T et al.
Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2013
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.
Shin CR et al.
Bone Marrow Transplantation, 2012
Ubiquitylation-dependent negative regulation of WASp is essential for actin cytoskeleton dynamics.
Reicher B et al.
Molecular and Cellular Biology, 2012
Wiskott-Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis.
Chandrakasan S et al.
Pediatric Blood & Cancer, 2011
A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.
Massaad MJ et al.
The Journal of Allergy and Clinical Immunology, 2011
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
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
Albert MH et al.
Blood, 2010
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
Rajmohan R et al.
Fems Yeast Research, 2009
Applications of flow cytometry for the study of primary immune deficiencies.
Oliveira JB et al.
Current Opinion in Allergy and Clinical Immunology, 2008
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
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
Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect.
Gismondi A 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
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
Wiskott-Aldrich syndrome with possible congenital Cytomegalovirus infection: A diagnostic dilemma.
Sobouti B et al.
The National Medical Journal of India, 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