Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R41*
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WAS

NM_000377.3:p.R41*

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

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

Mallebranche C et al.

American Journal of Hematology, 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

Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.

Zhao Q et al.

Journal of Autoimmunity, 2024

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

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

Abnormal distribution of distinct lymphocyte subsets in children with Wiskott-Aldrich syndrome.

Zhou L et al.

Human Immunology, 2017

Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome.

Vignesh P et al.

Pediatric Blood & Cancer, 2017

The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.

Lee WI et al.

Annals of Medicine, 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

In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome.

Xie JW et al.

Human Immunology, 2015

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.

Mahlaoui N et al.

Blood, 2013

Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.

Safaei S et al.

Iranian Journal of Allergy, Asthma, and Immunology, 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

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

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

Lee PP et al.

Journal of Clinical Immunology, 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

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

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

Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.

Chien YH et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2004

Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine.

Badolato R et al.

Journal of Immunology (baltimore, Md. : 1950), 1998

Unrelated donor BMT for Wiskott-Aldrich syndrome.

Lenarsky C et al.

Bone Marrow Transplantation, 1993

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

Chuong HQ et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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."