Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.I290T
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WAS

NM_000377.3:p.I290T

Associated Papers

A Novel Autoimmune Presentation of Wiskott-Aldrich Syndrome: Type 1 Diabetes.

Rayan MN et al.

Immunity, Inflammation and Disease, 2026

Controlled WASp activity regulates the proliferative response for Treg cell differentiation in the thymus.

Vasconcelos-Fontes L et al.

European Journal of Immunology, 2024

Understanding immunoactinopathies: A decade of research on WAS gene defects.

Vieira RC et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.

Marx D et al.

Blood Advances, 2022

The mouse homolog of the mutant WASp responsible for human X-linked neutropenia renders granulopoiesis ineffective.

Ikeda M et al.

Biochemical and Biophysical Research Communications, 2022

Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.

He M et al.

The Journal of Allergy and Clinical Immunology, 2022

Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells.

Kritikou JS et al.

Jci Insight, 2021

[X-linked neutropenia caused by gain-of-function mutation in WAS gene: two cases report and literature review].

Xia Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

A novel mutation in Wiskott-Aldrich gene manifesting as macrothrombocytopenia and neutropenia.

Arwani M et al.

Bmj Case Reports, 2018

Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation.

Kobayashi M et al.

Annals of Hematology, 2018

Whole Exome Sequencing of an X-linked Thrombocytopenia Patient with Normal Sized Platelets.

Fathi M et al.

Avicenna Journal of Medical Biotechnology, 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."