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

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          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.

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          Most cited references5

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

          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.
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            Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

            The approach to the diagnosis of severe combined immunodeficiency disease (SCID) and related disorders varies among institutions and countries.
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              The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

              Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.
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                Author and article information

                Journal
                J Clin Immunol
                Journal of clinical immunology
                Springer Science and Business Media LLC
                1573-2592
                0271-9142
                Jan 2020
                : 40
                : 1
                Affiliations
                [1 ] Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA, Faculty of Medecine and Pharmacy, King Hassan II University, Casablanca, Morocco. profbousfiha@gmail.com.
                [2 ] Clinical Immunology Unit, Pediatric Infectiouse Disease Departmentn Children's Hospital, Ibn Rochd University Hospital, Casablanca, Morocco. profbousfiha@gmail.com.
                [3 ] Laboratoire national de référence, University Mohamed VI of Health Sciences, Casablanca, Morocco.
                [4 ] Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris University, Paris, France.
                [5 ] Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
                [6 ] Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
                [7 ] Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA, Faculty of Medecine and Pharmacy, King Hassan II University, Casablanca, Morocco.
                [8 ] Division of Immunology, Children's Hospital Boston, Boston, USA.
                [9 ] Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, USA.
                [10 ] Ruth's Children's Hospital-Technion, Haifa, Israel.
                [11 ] Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
                [12 ] Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.
                [13 ] Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
                [14 ] Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
                [15 ] Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, USA.
                [16 ] Department of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris, Cité, Paris, France.
                [17 ] Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, USA.
                [18 ] St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA.
                [19 ] Howard Hughes Medical Institute, New York, USA.
                [20 ] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
                [21 ] Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
                [22 ] Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, USA.
                [23 ] Garvan Institute of Medical Research, Darlinghurst, Australia.
                [24 ] St Vincent's Clinical School, Faculty of Medicine, UNSW, Sydney, Australia.
                Article
                10.1007/s10875-020-00758-x
                10.1007/s10875-020-00758-x
                7082388
                32048120
                4c704974-c8b1-41ed-9d4f-477b0aea51d3
                History

                IUIS,autoinflammatory disorders,classification,immune dysregulation,inborn errors of immunity,primary immune deficiency

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