CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis | Zendy

Lisa Isabel Olfe | Zendy; Sandra von Hardenberg | Zendy; Winfried Hofmann | Zendy; Bernd Auber | Zendy; Ulrich Baumann | Zendy; Rita Beier | Zendy; Ignatius Ryan Adriawan | Zendy; Faranaz Atschekzei | Zendy; Torsten Witte | Zendy; Georgios Sogkas | Zendy

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CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis

Author(s) -

Lisa Isabel Olfe,

Sandra von Hardenberg,

Winfried Hofmann,

Bernd Auber,

Ulrich Baumann,

Rita Beier,

Ignatius Ryan Adriawan,

Faranaz Atschekzei,

Torsten Witte,

Georgios Sogkas

Publication year - 2022

Publication title -

international archives of allergy and immunology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.696

H-Index - 100

eISSN - 1423-0097

pISSN - 1018-2438

DOI - 10.1159/000527051

Subject(s) - ctla 4 , common variable immunodeficiency , immune dysregulation , immunology , copy number variation , primary immunodeficiency , immunodeficiency , biology , immune system , phenotype , germline , medicine , genetics , antibody , t cell , genome , gene

The diagnostic yield of next-generation sequencing (NGS) technologies in the diagnosis of monogenic inborn errors of immunity (IEI) remains limited, rarely exceeding 30%. Monoallelic pathogenic germline variants in cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) result in variable immunodeficiency and immune dysregulation. The genetic diagnosis of CTLA-4 insufficiency can affect follow-up procedures and may lead to consideration of treatment with CTLA-4-Ig.

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