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
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.
Gaikwad P et al.
Journal of Clinical Immunology, 2024
X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature.
Hamanaka S et al.
Journal of Pediatrics. Clinical Practice, 2024
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
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses.
Palevski D et al.
Journal of Clinical 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
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
Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott-Aldrich syndrome.
Cervantes-Luevano KE et al.
The Journal of Allergy and Clinical Immunology, 2018
Wiskott-Aldrich Syndrome Misdiagnosed as Immune Thrombocytopenic Purpura: A Case Report.
Karalexi MA et al.
Journal of Pediatric Hematology/oncology, 2018
Abnormal distribution of distinct lymphocyte subsets in children with Wiskott-Aldrich syndrome.
Zhou L et al.
Human Immunology, 2017
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH et al.
Nature Communications, 2017
FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy.
Lexmond WS et al.
The Journal of Clinical Investigation, 2016
[Clinical features and genotype analysis of 132 patients with Wiskott-Aldrich syndrome].
Li W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
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
Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.
Pala F et al.
The Journal of Clinical Investigation, 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
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.
Oshima K et al.
Journal 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
Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defect.
Bender M et al.
Nature Communications, 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
Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.
Amarinthnukrowh P et al.
Scandinavian Journal of Immunology, 2013
Monozygotic twin pair showing discordant phenotype for X-linked thrombocytopenia and Wiskott-Aldrich syndrome: a role for epigenetics?
Buchbinder D et al.
Journal of Clinical Immunology, 2011
The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism.
Jeanson-Leh L et al.
European Journal of Haematology, 2011
Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
Gulácsy V et al.
Molecular Immunology, 2011
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
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
Impaired integrin-dependent function in Wiskott-Aldrich syndrome protein-deficient murine and human neutrophils.
Zhang H et al.
Immunity, 2006
Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion.
Tsuboi S et al.
Embo Reports, 2006
The Wiskott-Aldrich syndrome.
Ochs HD et al.
The Journal of Allergy and Clinical Immunology, 2006
Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.
Wada T et al.
Blood, 2005
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
Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology.
Ariga T et al.
Journal of Pediatric Hematology/oncology, 2004
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Bourne HC et al.
Pathology, 2004
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.
Imai K et al.
Current Opinion in Allergy and Clinical Immunology, 2003
Macrophages of patients with X-linked thrombocytopenia display an attenuated Wiskott-Aldrich syndrome phenotype.
Linder S et al.
Immunology and Cell Biology, 2003
Retrovirus-mediated WASP gene transfer corrects Wiskott-Aldrich syndrome T-cell dysfunction.
Wada T et al.
Human Gene Therapy, 2002
Henoch-Schönlein purpura in Wiskott-Aldrich syndrome.
Duzova A et al.
Pediatric Nephrology (berlin, Germany), 2001
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
Fillat C et al.
American Journal of Medical Genetics, 2001
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
Devriendt K et al.
Nature Genetics, 2001