Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.P222L
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WAS

NM_000377.3:p.P222L

Associated Papers

Screening for Wiskott-Aldrich Syndrome in Chronic Idiopathic Thrombocytopenic Purpura.

Deivasigamani P et al.

Indian Journal of Pediatrics, 2025

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

Clinical Features, Cancer Biology, Transplant Approach and Other Integrated Management Strategies for Wiskott-Aldrich Syndrome.

Hosahalli Vasanna S et al.

Journal of Multidisciplinary Healthcare, 2021

[Gene analysis of a family with Wiskott-Aldrich syndrome].

Wang Y et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020

Faecal microbial dysbiosis in children with Wiskott-Aldrich syndrome.

Zhang L et al.

Scandinavian Journal of Immunology, 2020

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

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

Zhou L et al.

Human Immunology, 2017

[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

Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.

Liu DW et al.

Pediatric Blood & Cancer, 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

Current and emerging treatment options for Wiskott-Aldrich syndrome.

Worth AJ et al.

Expert Review of Clinical Immunology, 2015

[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].

Liu N et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

[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

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

Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.

Lee YH et al.

Journal of Korean Medical Science, 2009

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

Lee PP et al.

Journal of Clinical Immunology, 2009

Wiskott-Aldrich syndrome.

Notarangelo LD et al.

Current Opinion in Hematology, 2008

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

The Wiskott-Aldrich syndrome.

Ochs HD et al.

The Journal of Allergy and Clinical Immunology, 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

Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Bourne HC et al.

Pathology, 2004

Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.

Jo EK et al.

International Journal of Hematology, 2003

Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses.

Orange JS et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

Unrelated donor BMT for Wiskott-Aldrich syndrome.

Lenarsky C et al.

Bone Marrow Transplantation, 1993

[Wiskott-Aldrich syndrome].

Kuramoto A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

[Clinical conditions and nursing of a child with Wiskott-Aldrich syndrome].

Hoshina K et al.

[kango Gijutsu] : [nursing Technique], 1976

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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."