Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.D259_V260Splc
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WAS

NM_000377.3:p.D259_V260Splc

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

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

Esmaeilzadeh H et al.

Bmc Immunology, 2025

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

Mallebranche C et al.

American Journal of Hematology, 2025

X-Linked Thrombocytopenia in a 6-Year-Old Boy.

Miri-Aliabad G et al.

Turkish Archives of Pediatrics, 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

Haploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report.

Pury S et al.

Archivos Argentinos De Pediatria, 2024

Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs).

Peng XP et al.

Clinical Immunology (orlando, Fla.), 2023

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.

Obydennyi SI et al.

British Journal of Haematology, 2023

Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran.

Hassanzadeh S et al.

Irish Journal of Medical Science, 2023

Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions.

Saeidian AH et al.

Jci Insight, 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

Successful Haploidentical Stem Cell Transplant With Posttransplant Cyclophosphamide in Wiskott-Aldrich Syndrome With Myeloablative Conditioning.

Sharma A et al.

Journal of Pediatric Hematology/oncology, 2021

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M et al.

The Application of Clinical Genetics, 2021

Child with Wiskott-Aldrich syndrome underwent atypical immune reconstruction after umbilical cord blood transplantation: A case report.

Li BH et al.

World Journal of Clinical Cases, 2019

[Genetic screening in early diagnosis of neonatal WAS gene-related disorders].

Liu X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

Petersen BS et al.

Inflammatory Bowel Diseases, 2017

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

[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

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

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

Oshima K et al.

Journal of Clinical Immunology, 2015

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

[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

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

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

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

[A case of Wiskott-Aldrich syndrome with specific immunological deficiencies].

De Filippo P et al.

La Pediatria, 1976

[Case of Wiskott-Aldrich syndrome].

Esposito L et al.

La Pediatria, 1975

[Survival of platelets and of fibrinogen in a case of the Wiskott-Aldrich syndrome].

Musumeci S et al.

La Pediatria, 1973

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."