Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

• Published in: Journal of clinical immunology Vol. 40; no. 1; pp. 66 - 81
• Main Authors: Bousfiha, Aziz, Jeddane, Leila, Picard, Capucine, Al-Herz, Waleed, Ailal, Fatima, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D., Oksenhendler, Eric, Puck, Jennifer, Torgerson, Troy R., Casanova, Jean-Laurent, Sullivan, Kathleen E., Tangye, Stuart G.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.01.2020; Springer Nature B.V
• Subjects: Allergies; Autoimmunity; Autoimmunity - genetics; Biomedical and Life Sciences; Biomedicine; Classification; Genotype; Hereditary Autoinflammatory Diseases - genetics; Humans; Hypersensitivity; Immunity; Immunity - genetics; Immunologic Deficiency Syndromes - genetics; Immunology; Infectious Diseases; Internal Medicine; Malignancy; Medical Microbiology; Original; Original Article; Phenotype; Phenotypes; autoinflammatory disorders; inborn errors of immunity; IUIS; classification; primary immune deficiency; immune dysregulation
• ISSN: 0271-9142; 1573-2592; 1573-2592
• DOI: 10.1007/s10875-020-00758-x

Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI.