Human Inborn Errors of Immunity: 2019 Update on the Classification

ABSTRACT: We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.

• Autores: Franco Restrepo, José Luis; Tangye, Stuart G; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Holland, Steven M; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D; Oksenhendler, Eric; Picard, Capucine; Puck, Jennifer; Torgerson, Troy R; Casanova, Jean-Laurent; Sullivan, Kathleen E
• Tipo de recurso: Article of investigation
• Fecha de publicación: 2020
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/40262
• Acceso en línea: https://hdl.handle.net/10495/40262
• Palabra clave: Enfermedades de Inmunodeficiencia Primaria; Primary Immunodeficiency Diseases; Fenotipo; Phenotype; Enfermedades del Sistema Inmune; Immune System Diseases; https://id.nlm.nih.gov/mesh/D000081207; https://id.nlm.nih.gov/mesh/D010641; https://id.nlm.nih.gov/mesh/D007154
• Rights: openAccess
• License: https://creativecommons.org/licenses/by/4.0/