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

• Published in: Journal of clinical immunology Vol. 40; no. 1; pp. 24 - 64
• Main Authors: Tangye, Stuart G., Al-Herz, Waleed, Bousfiha, Aziz, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, 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.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.01.2020; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Defects; Immunity; Immunology; Infectious Diseases; Internal Medicine; Medical Microbiology; Molecular modelling; Next-generation sequencing; Original; Original Article; Phenotypes; Primary immunodeficiencies; autoinflammatory disorders; inborn errors of immunity; IUIS; next-generation sequencing; primary immune deficiency; immune dysregulation
• ISSN: 0271-9142; 1573-2592; 1573-2592
• DOI: 10.1007/s10875-019-00737-x

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.