Associated Papers
A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.
Razaghian A et al.
Journal of Clinical Immunology, 2026
Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.
Esmaeilzadeh H et al.
Bmc Immunology, 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
Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.
Bouzakoura F et al.
Frontiers in Immunology, 2025
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
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
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
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
Screening for Wiskott-Aldrich syndrome by flow cytometry.
Chiang SCC et al.
The Journal of Allergy and Clinical Immunology, 2018
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
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
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
Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.
Wada T et al.
Pediatric Blood & Cancer, 2014
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.
Shin CR et al.
Bone Marrow Transplantation, 2012
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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: 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
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
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
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
Ho LL et al.
British Journal of Haematology, 2001
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.
Rong SB et al.
Journal of Molecular Medicine (berlin, Germany), 2000
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.
Facchetti F et al.
The Journal of Pathology, 1998
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
Villa A et al.
Nature Genetics, 1995