Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Aziz Bousfiha 1 2, Leila Jeddane 3, Capucine Picard 4 5, Waleed Al-Herz 6, Fatima Ailal 7, Talal Chatila 8, Charlotte Cunningham-Rundles 9, Amos Etzioni 10, Jose Luis Franco 11, Steven M Holland 12, Christoph Klein 13, Tomohiro Morio 14, Hans D Ochs 15, Eric Oksenhendler 16, Jennifer Puck 17, Troy R Torgerson 15, Jean-Laurent Casanova 18 19 20 21, Kathleen E Sullivan 22, Stuart G Tangye 23 24
Affiliations
Affiliations
- Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA, Faculty of Medecine and Pharmacy, King Hassan II University, Casablanca, Morocco. profbousfiha@gmail.com.
- Clinical Immunology Unit, Pediatric Infectiouse Disease Departmentn Children's Hospital, Ibn Rochd University Hospital, Casablanca, Morocco. profbousfiha@gmail.com.
- Laboratoire national de référence, University Mohamed VI of Health Sciences, Casablanca, Morocco.
- Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris University, Paris, France.
- Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
- Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
- Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA, Faculty of Medecine and Pharmacy, King Hassan II University, Casablanca, Morocco.
- Division of Immunology, Children's Hospital Boston, Boston, USA.
- Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, USA.
- Ruth's Children's Hospital-Technion, Haifa, Israel.
- Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
- Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
- Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
- Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
- Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, USA.
- Department of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris, Cité, Paris, France.
- Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, USA.
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA.
- Howard Hughes Medical Institute, New York, USA.
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
- Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
- Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, USA.
- Garvan Institute of Medical Research, Darlinghurst, Australia.
- St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia.
Abstract
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.
Keywords: IUIS; autoinflammatory disorders; classification; immune dysregulation; inborn errors of immunity; primary immune deficiency.
References
https://pubmed.ncbi.nlm.nih.gov/