Open AccessCTLA-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.