Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.C35*
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CTLA4

NM_005214.5:p.C35*

Associated Papers

The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.

Posadas-Cantera S et al.

Frontiers in Immunology, 2024

Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

Krausz M et al.

Frontiers in Immunology, 2022

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

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

Mitsuiki N et al.

Immunological Reviews, 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Schwab C et al.

The Journal of Allergy and Clinical Immunology, 2018

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.

Egg D et al.

Frontiers in Immunology, 2018

Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.

Verma N et al.

Clinical and Experimental Immunology, 2017

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Lo B et al.

Blood, 2016

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Schubert D et al.

Nature Medicine, 2014

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