Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

ABSTRACT: We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 phenocopy due to autoantibodies, that have either been discovered since the previous update (published January 2020) or were characterized earlier but have since been confirmed or expanded in subsequent studies. While variants in additional genes associated with immune diseases have been reported in the literature, this update includes only those that the committee assessed that reached the necessary threshold to represent novel inborn errors of immunity. There are now a total of 485 inborn errors of immunity. These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of molecular, cellular, and immunological mechanisms of disease pathogenesis, thereby simultaneously enhancing immunological knowledge and improving patient diagnosis and management. This report is designed to serve as a resource for immunologists and geneticists pursuing the molecular diagnosis of individuals with heritable immunological disorders and for the scientific dissection of cellular and molecular mechanisms underlying monogenic and related human immune diseases.

• Autores: Franco Restrepo, José Luis; Tangye, Stuart; Al-Herz, Waleed; Bousfiha, Aziz; Chatila, Talal; Cunningham-Rundles, Charlotte; Etzioni, Amos; Holland, Steven; 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:10495/40261
• Acceso en línea: https://hdl.handle.net/10495/40261
• 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: http://creativecommons.org/licenses/by/2.5/co/