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.
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.
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.
Liu X, Li G, Liu Y, Zhou F, Huang X, Li K.Front Immunol. 2023 Mar 27;14:1111777. doi: 10.3389/fimmu.2023.1111777. eCollection 2023.PMID: 37051232 Free PMC article. Review.
Tangye SG, Al-Herz W, Bousfiha A,Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol (2020). 10.1007/s10875-019-00737-x - PMC - PubMed
Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, Abel L. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013;33(1):1–7. doi: 10.1007/s10875-012-9751-7. - DOI - PubMed
Bousfiha A, Jeddane L, Picard C, Ailal F, Gaspar HB, Al-Herz W, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol. 2018;38(1):129–143. doi: 10.1007/s10875-017-0465-8. - DOI - PMC - PubMed
Jeddane L, Ouair H, Benhsaien I, El Bakkouri J, Bousfiha AA. Primary immunodeficiency classification on smartphone. J Clin Immunol. 2017;37(1):1–2. doi: 10.1007/s10875-016-0354-6. - DOI - PubMed
Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the primary immune deficiency treatment consortium experience. J Allergy Clin Immunol. 2014;133(4):1092–8. - PMC - PubMed
