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primary immunodeficiency classification month download article/chapter ludwig-maximilians-university munich iuis phenotypical classification related subjects immunological phenotype entries jose luis franco privacy choices/manage cookies facultad de medicina full article pdf université paris cit� waleed al-herz research foundation—flanders european research council université paris diderot sorbonne paris cit� intramural research program human research studies personal data human inborn errors recent genotypic classification providing educational grants fwo grants g0c8517n jeffrey modell foundation mount sinai school hôpital saint-louis pennsylvania perelman school final submitted version institutional review boards university hospitals leuven torgerson department accepted manuscript version conditions privacy policy european economic area capucine picard mohamed vi university sheba medical center senior clinical investigator immunological societies ucsf benioff children primary immunodeficiencies rare diseases center accepting optional cookies data protection anne puel jennifer puck csl behring chair california san francisco additional information publisher' check access

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         headline:The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
         description: The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.
         datePublished:2022-10-06T00:00:00Z
         dateModified:2022-10-06T00:00:00Z
         pageStart:1508
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         keywords:
            IUIS
            Primary immune deficiency
            Inborn errors of immunity
            Immune dysregulation
            Autoinflammatory disorders
            Classification
            Immunology
            Infectious Diseases
            Internal Medicine
            Medical Microbiology
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      headline:The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
      description: The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.
      datePublished:2022-10-06T00:00:00Z
      dateModified:2022-10-06T00:00:00Z
      pageStart:1508
      pageEnd:1520
      sameAs:https://doi.org/10.1007/s10875-022-01352-z
      keywords:
         IUIS
         Primary immune deficiency
         Inborn errors of immunity
         Immune dysregulation
         Autoinflammatory disorders
         Classification
         Immunology
         Infectious Diseases
         Internal Medicine
         Medical Microbiology
      image:
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               type:PostalAddress
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            name:Université Paris Cité, Imagine Institute
            address:
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            address:
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      affiliation:
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            address:
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            name:Helsinki University Hospital
            address:
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      name:Raz Somech
      affiliation:
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            address:
               name:Pediatric Department and Immunology Unit, Sheba Medical Center, Tel Aviv, Israel
               type:PostalAddress
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      affiliation:
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            address:
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            name:Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine
            address:
               name:Division of Allergy Immunology, Department of Pediatrics, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, USA
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      name:Troy R. Torgerson
      affiliation:
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            address:
               name:Allen Institute for Immunology, Seattle, USA
               type:PostalAddress
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      name:Isabelle Meyts
      affiliation:
            name:University Hospitals Leuven and KU Leuven
            address:
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      name:Laboratoire d’Immunologie Clinique, d’Inflammation Et d’Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco
      name:Department of Pediatric Infectious Diseases and Clinical Immunology, A. Harouchi Hospital, Ibn Rochd Medical School, Casablanca, Morocco
      name:Laboratoire d’Immunologie Clinique, d’Inflammation Et d’Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco
      name:Garvan Institute of Medical Research, Darlinghurst, Australia
      name:Faculty of Medicine, St Vincent’s Clinical School, UNSW Sydney, Sydney, Australia
      name:Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris, France
      name:Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Université Paris Cité, Paris, France
      name:Laboratoire d’Immunologie Clinique, d’Inflammation Et d’Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco
      name:Laboratoire National de Référence, Mohamed VI University of Health Sciences, Casablanca, Morocco
      name:Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait
      name:Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, USA
      name:Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia
      name:Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA
      name:Dr Von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich, Munich, , Germany
      name:Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan
      name:Department of Clinical Immunology, Hôpital Saint-Louis, APHP, Université Paris Diderot, Sorbonne Paris Cité, Paris, France
      name:Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, Paris, France
      name:Université Paris Cité, Imagine Institute, Paris, France
      name:Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco, San Francisco, USA
      name:Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center and Rare Diseases Center, Children’s Hospital, University of Helsinki, Helsinki, Finland
      name:Helsinki University Hospital, Helsinki, Finland
      name:Pediatric Department and Immunology Unit, Sheba Medical Center, Tel Aviv, Israel
      name:Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA
      name:Division of Allergy Immunology, Department of Pediatrics, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, USA
      name:Allen Institute for Immunology, Seattle, USA
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