Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L39P
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WAS

NM_000377.3:p.L39P

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

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

Deivasigamani P et al.

Indian Journal of Pediatrics, 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

Wiskott-Aldrich syndrome protein expression in female WAS carriers: A flow cytometry study from North India.

Basu S et al.

Pediatric Blood & Cancer, 2024

Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.

Obydennyi SI et al.

British Journal of Haematology, 2023

A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation.

Consiglieri G et al.

Journal of Clinical Immunology, 2022

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

Neutrophils drive type I interferon production and autoantibodies in patients with Wiskott-Aldrich syndrome.

Cervantes-Luevano KE et al.

The Journal of Allergy and Clinical Immunology, 2018

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

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy.

Lexmond WS et al.

The Journal of Clinical Investigation, 2016

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.

Kolhatkar NS et al.

The Journal of Experimental Medicine, 2015

26371186 (PubMed )
Supplement: supp_jem.20150585_JEM_20150585_sm.pdf

Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene.

Oshima K et al.

Journal of 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

25200405 (PubMed )
Supplement: 12929_2014_91_MOESM1_ESM.pdf

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.

Massaad MJ et al.

The Journal of Allergy and Clinical Immunology, 2011

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

Applications of flow cytometry for the study of primary immune deficiencies.

Oliveira JB et al.

Current Opinion in Allergy and Clinical Immunology, 2008

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

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

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

Actin cytoskeletal function is spared, but apoptosis is increased, in WAS patient hematopoietic cells.

Rengan R et al.

Blood, 2000

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

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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."