Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.V40M
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CTLA4

NM_005214.5:p.V40M

Associated Papers

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK et al.

The Journal of Allergy and Clinical Immunology, 2022

Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors.

Bruns L et al.

Frontiers in Immunology, 2022

Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept.

Angelino G et al.

European Journal of Gastroenterology & Hepatology, 2021

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.

Rojas-Restrepo J et al.

Frontiers in Immunology, 2021

Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.

Hoshino A et al.

Frontiers in Immunology, 2021

35087518 (PubMed )
Supplement: DataSheet_1.docx

What did we learn from CTLA-4 insufficiency on the human immune system?

Mitsuiki N et al.

Immunological Reviews, 2019

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

Rae W et al.

Clinical Genetics, 2018

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

Rae W et al.

Clinical & Translational Immunology, 2017

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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."