Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R321*
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WAS

NM_000377.3:p.R321*

Associated Papers

Comprehensive clinical and immunologic characterization of Wiskott-Aldrich syndrome in Iran: a 10-year cohort study.

Esmaeilzadeh H et al.

Bmc Immunology, 2025

Unmasking Wiskott-Aldrich Syndrome in Adulthood in a Case of Long-Standing Bleeding, Infections, and Steroid-Induced Morbidity.

Dutta A

Cureus, 2025

Comorbidities in Mild WAS/XLT Require Lifelong Follow-Up and Consideration of Definitive Treatment.

Mallebranche C et al.

American Journal of Hematology, 2025

Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children.

Drago E et al.

Journal of Clinical Immunology, 2024

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

Shibata H 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

Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Rawat A et al.

Scientific Reports, 2022

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.

Lashkari HP et al.

Indian Journal of Pediatrics, 2022

Successful low-dose chemotherapy for refractory Epstein-Barr virus-related post-transplant lymphoproliferative disorder following hematopoietic stem cell transplantation in a child with Wiskott-Aldrich syndrome.

Xi B et al.

Clinical Case Reports, 2021

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M et al.

The Application of Clinical Genetics, 2021

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

Gene therapy for Wiskott-Aldrich syndrome: here to stay.

Candotti F

The Lancet. Haematology, 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

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

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

Diffuse large B cell lymphoma in wiskott-Aldrich syndrome: a case report and review of literature.

Senapati J et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2014

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

Aiuti A et al.

Science (new York, N.y.), 2013

Outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome.

Shin CR et al.

Bone Marrow Transplantation, 2012

Molecular basis of Wiskott-Aldrich syndrome in patients from India.

David S et al.

European Journal of Haematology, 2012

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

Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome.

Davis BR et al.

Blood, 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

Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation.

Pai SY et al.

Bone Marrow Transplantation, 2006

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

Analysis of T-cell repertoire diversity in Wiskott-Aldrich syndrome.

Wada T et al.

Blood, 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

Clinical course of patients with WASP gene mutations.

Imai K et al.

Blood, 2004

Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations.

Kawai S et al.

Journal of Immunological Methods, 2002

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

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.

Fillat C et al.

American Journal of Medical Genetics, 2001

Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

Lemahieu V et al.

Human Mutation, 1999

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

Zhu Q et al.

Blood, 1997

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

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

Zhu Q et al.

Blood, 1995

Unrelated donor BMT for Wiskott-Aldrich syndrome.

Lenarsky C et al.

Bone Marrow Transplantation, 1993

Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome.

Sasahara Y et al.

European Journal of Pediatrics, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."