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
Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.
Ouyang X et al.
Frontiers in Genetics, 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
Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.
Obydennyi SI et al.
British Journal of Haematology, 2023
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 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
Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.
Ji X et al.
Orphanet Journal of Rare Diseases, 2022
A case of early recurrent immunoglobulin A nephropathy and T-cell-mediated rejection in a transplant patient with Wiskott-Aldrich syndrome.
Yamaguchi K et al.
Cen Case Reports, 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
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
Wiskott-Aldrich Syndrome in four male siblings from a consanguineous family from Lebanon.
Mansour R et al.
Clinical Immunology (orlando, Fla.), 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
R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome.
Sarkar K et al.
The Journal of Allergy and Clinical Immunology, 2018
Screening for Wiskott-Aldrich syndrome by flow cytometry.
Chiang SCC et al.
The Journal of Allergy and Clinical Immunology, 2018
Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein.
Medina SS et al.
Bmc Pediatrics, 2017
Successful Long-term Graft Survival of a Renal Transplantation Patient with Wiskott-Aldrich Syndrome.
Kai K et al.
Internal Medicine (tokyo, Japan), 2016
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
Woon ST et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016
SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.
Sarkar K et al.
Blood, 2015
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
Platelet actin nodules are podosome-like structures dependent on Wiskott-Aldrich syndrome protein and ARP2/3 complex.
Poulter NS et al.
Nature Communications, 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
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Westbury SK et al.
Genome Medicine, 2015
Current and emerging treatment options for Wiskott-Aldrich syndrome.
Worth AJ et al.
Expert Review of Clinical Immunology, 2015
Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome.
Sarkar K et al.
Blood, 2014
X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.
Jain N et al.
Journal of Biomedical Science, 2014
Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration.
Worth AJ et al.
Blood, 2013
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.
Nikolaev SI et al.
Cancer Research, 2012
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.
Shin CR et al.
Bone Marrow Transplantation, 2012
[Analysis of prenatal diagnosis for seven high-risk fetuses with Wiskott-Aldrich syndrome].
Zhao Q et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
IL-2 induces a WAVE2-dependent pathway for actin reorganization that enables WASp-independent human NK cell function.
Orange JS et al.
The Journal of Clinical Investigation, 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
Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.
Zhang ZY et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2010
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: The actin cytoskeleton and immune cell function.
Blundell MP et al.
Disease Markers, 2010
Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.
Rajmohan R et al.
Fems Yeast Research, 2009
The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.
Moratto D et al.
Expert Review of Clinical Immunology, 2007
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
Andreu N et al.
International Journal of Molecular Medicine, 2007
WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).
de la Fuente MA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion.
Tsuboi S et al.
Embo Reports, 2006
Structure and function of the Wiskott-Aldrich syndrome protein.
Ochs HD et al.
Current Opinion in Hematology, 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