Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Abstract

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.

Keywords

Affiliated Institutions

• KU Leuven BE
• Université Paris Cité FR
• Assistance Publique – Hôpitaux de Paris FR
• Helsinki University Hospital FI
• University of Hassan II Casablanca MA
• Universidad de Antioquia CO
• Hôpital Saint-Louis FR
• Garvan Institute of Medical Research AU
• University of Pennsylvania US
• Icahn School of Medicine at Mount Sinai US
• Tokyo Medical and Dental University JP
• Ludwig-Maximilians-Universität München DE
• Sorbonne Paris Cité FR
• National Institutes of Health US
• Children's Hospital of Philadelphia US
• National Institute of Allergy and Infectious Diseases US
• Délégation Paris 7 FR
• Sheba Medical Center IL
• Allen Institute for Immunology US
• Inserm FR
• Philadelphia University US
• UCSF Benioff Children's Hospital US
• University of Helsinki FI
• Kuwait University KW
• University of California, San Francisco US

Related Publications