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
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome.
Pille M et al.
Molecular Therapy. Methods & Clinical Development, 2024
Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.
Obydennyi SI et al.
British Journal of Haematology, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
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
Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families.
Jiang J et al.
Scandinavian Journal of 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
"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
Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.
Zhang S et al.
Frontiers in Oncology, 2021
Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.
Sudhakar M et al.
The Application of Clinical Genetics, 2021
X-Linked Thrombocytopenia and Vanishing White Matter Disease in a Child: Double Tragedy.
Pilania RK et al.
Journal of Clinical Immunology, 2020
Wiskott-Aldrich syndrome protein senses irradiation-induced DNA damage to coordinate the cell-protective Golgi dispersal response in human T and B lymphocytes.
Wen KK et al.
The Journal of Allergy and Clinical Immunology, 2020
Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins CJ et al.
Frontiers in Immunology, 2020
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Suzuki H et al.
Nature, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.
Jin YY et al.
Frontiers in 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
Nuclear ARP2/3 drives DNA break clustering for homology-directed repair.
Schrank BR et al.
Nature, 2018
Chronic nephritis associated with X-linked thrombocytopenia.
Yoshida T et al.
Cen Case Reports, 2018
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins CJ et al.
Frontiers in Immunology, 2018
Defective thymic output in WAS patients is associated with abnormal actin organization.
Li W et al.
Scientific Reports, 2017
Abnormal distribution of distinct lymphocyte subsets in children with Wiskott-Aldrich syndrome.
Zhou L et al.
Human Immunology, 2017
FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy.
Lexmond WS et al.
The Journal of Clinical Investigation, 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
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
Successful long-term outcome of kidney transplantation in a patient with X-linked thrombocytopenia: 9-year follow-up.
Garnier AS et al.
Transplantation, 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
Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.
Shin CR et al.
Bone Marrow Transplantation, 2012
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
Lanzi G et al.
The Journal of Experimental Medicine, 2012
Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia.
Leblebisatan G et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 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
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
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
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
Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro.
Dewey RA et al.
Experimental Hematology, 2006
Wiskott-Aldrich syndrome protein is involved in alphaIIb beta3-mediated cell adhesion.
Tsuboi S et al.
Embo Reports, 2006
Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient.
Proust A et al.
European Journal of Haematology, 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