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

BACKGROUND: 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 i...

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Detalles Bibliográficos
Autores principales: Olfe, Lisa, von Hardenberg, Sandra, Hofmann, Winfried, Auber, Bernd, Baumann, Ulrich, Beier, Rita, Adriawan, Ignatius Ryan, Atschekzei, Faranaz, Witte, Torsten, Sogkas, Georgios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Experimental Immunology − Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808738/
https://www.ncbi.nlm.nih.gov/pubmed/36273440
http://dx.doi.org/10.1159/000527051

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