The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Aziz Bousfiha^{1

2}, Abderrahmane Moundir³, Stuart G Tangye^{4

5}, Capucine Picard^{6

7}, Leïla Jeddane^{3

8}, Waleed Al-Herz⁹, Charlotte C Rundles¹⁰, Jose Luis Franco¹¹, Steven M Holland¹², Christoph Klein¹³, Tomohiro Morio¹⁴, Eric Oksenhendler¹⁵, Anne Puel^{16

17}, Jennifer Puck¹⁸, Mikko R J Seppänen^{19

20}, Raz Somech²¹, Helen C Su¹², Kathleen E Sullivan²², Troy R Torgerson²³, Isabelle Meyts²⁴

Affiliations

¹ Laboratoire d'Immunologie Clinique, d'Inflammation Et d'Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco. profbousfiha@gmail.com.
² Department of Pediatric Infectious Diseases and Clinical Immunology, A. Harouchi Hospital, Ibn Rochd Medical School, Casablanca, Morocco. profbousfiha@gmail.com.
³ Laboratoire d'Immunologie Clinique, d'Inflammation Et d'Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco.
⁴ Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
⁵ Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
⁶ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris, France.
⁷ Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Université Paris Cité, Paris, EU, France.
⁸ Laboratoire National de Référence, Mohamed VI University of Health Sciences, Casablanca, Morocco.
⁹ Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
¹⁰ Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
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, MD, USA.
¹³ Dr Von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, , EU, Germany.
¹⁴ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
¹⁵ Department of Clinical Immunology, Hôpital Saint-Louis, APHP, Université Paris Diderot, Sorbonne Paris Cité, Paris, EU, France.
¹⁶ Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, 75015, Paris, EU, France.
¹⁷ Université Paris Cité, Imagine Institute, 75015, Paris, EU, France.
¹⁸ Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
¹⁹ Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center and Rare Diseases Center, Children's Hospital, University of Helsinki, Helsinki, Finland.
²⁰ Helsinki University Hospital, Helsinki, Finland.
²¹ Pediatric Department and Immunology Unit, Sheba Medical Center, Tel Aviv, Israel.
²² Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
²³ Allen Institute for Immunology, Seattle, WA, USA.
²⁴ Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000, Louvain, EU, Belgium.

PMID: 36198931
DOI: 10.1007/s10875-022-01352-z

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Aziz Bousfiha et al. J Clin Immunol. 2022 Oct.

. 2022 Oct;42(7):1508-1520.

doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6.

Authors

Affiliations

¹ Laboratoire d'Immunologie Clinique, d'Inflammation Et d'Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco. profbousfiha@gmail.com.
² Department of Pediatric Infectious Diseases and Clinical Immunology, A. Harouchi Hospital, Ibn Rochd Medical School, Casablanca, Morocco. profbousfiha@gmail.com.
³ Laboratoire d'Immunologie Clinique, d'Inflammation Et d'Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco.
⁴ Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
⁵ Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
⁶ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris, France.
⁷ Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Université Paris Cité, Paris, EU, France.
⁸ Laboratoire National de Référence, Mohamed VI University of Health Sciences, Casablanca, Morocco.
⁹ Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
¹⁰ Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
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, MD, USA.
¹³ Dr Von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, , EU, Germany.
¹⁴ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
¹⁵ Department of Clinical Immunology, Hôpital Saint-Louis, APHP, Université Paris Diderot, Sorbonne Paris Cité, Paris, EU, France.
¹⁶ Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, 75015, Paris, EU, France.
¹⁷ Université Paris Cité, Imagine Institute, 75015, Paris, EU, France.
¹⁸ Department of Pediatrics, UCSF Benioff Children's Hospital, University of California San Francisco, San Francisco, CA, USA.
¹⁹ Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center and Rare Diseases Center, Children's Hospital, University of Helsinki, Helsinki, Finland.
²⁰ Helsinki University Hospital, Helsinki, Finland.
²¹ Pediatric Department and Immunology Unit, Sheba Medical Center, Tel Aviv, Israel.
²² Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
²³ Allen Institute for Immunology, Seattle, WA, USA.
²⁴ Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000, Louvain, EU, Belgium.

PMID: 36198931
DOI: 10.1007/s10875-022-01352-z

Abstract

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.

Keywords: Autoinflammatory disorders; Classification; IUIS; Immune dysregulation; Inborn errors of immunity; Primary immune deficiency.

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References

1. Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med. 2014;211(11):2137–49. - DOI - PubMed - PMC
1. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol (2022). https://doi.org/10.1007/s10875-022-01289-3 .
1. 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 - PubMed
1. 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 - PubMed

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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Affiliations

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Authors

Affiliations

Abstract

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical