The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Stuart G Tangye^{1

2}, Waleed Al-Herz³, Aziz Bousfiha⁴, Charlotte Cunningham-Rundles⁵, Jose Luis Franco⁶, Steven M Holland⁷, Christoph Klein⁸, Tomohiro Morio⁹, Eric Oksenhendler¹⁰, Capucine Picard^{11

12}, Anne Puel^{13

14}, Jennifer Puck¹⁵, Mikko R J Seppänen¹⁶, Raz Somech¹⁷, Helen C Su⁷, Kathleen E Sullivan¹⁸, Troy R Torgerson¹⁹, Isabelle Meyts²⁰

Affiliations

¹ Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, 2010, Australia. s.tangye@garvan.org.au.
² Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia. s.tangye@garvan.org.au.
³ Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
⁴ Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
⁵ Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
⁶ Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
⁷ Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
⁸ Dr von Hauner Childrens Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
⁹ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
¹⁰ Department of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris Cité, Paris, France.
¹¹ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris, France.
¹² Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
¹³ Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, 75015, Paris, France.
¹⁴ Imagine Institute, University of Paris, 75015, Paris, France.
¹⁵ Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
¹⁶ Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center and Rare Diseases Center, Childrens Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
¹⁷ Pediatric Department and Immunology Unit, Sheba Medical Center, Tel Aviv, Israel.
¹⁸ Division of Allergy Immunology, Department of Pediatrics, Childrens Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
¹⁹ Allen Institute for Immunology, Seattle, WA, USA.
²⁰ Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000, Leuven, Belgium.

PMID: 33598806
PMCID: PMC7889474
DOI: 10.1007/s10875-021-00980-1

Review

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Stuart G Tangye et al. J Clin Immunol. 2021 Apr.

. 2021 Apr;41(3):666-679.

doi: 10.1007/s10875-021-00980-1. Epub 2021 Feb 18.

Authors

Affiliations

¹ Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, 2010, Australia. s.tangye@garvan.org.au.
² Faculty of Medicine, St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia. s.tangye@garvan.org.au.
³ Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
⁴ Laboratoire d'Immunologie Clinique, d'Inflammation et d'Allergy LICIA Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
⁵ Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
⁶ Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
⁷ Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
⁸ Dr von Hauner Childrens Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
⁹ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
¹⁰ Department of Clinical Immunology, Hôpital Saint-Louis, APHP, University Paris Diderot, Sorbonne Paris Cité, Paris, France.
¹¹ Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, APHP, Paris, France.
¹² Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris University, Paris, France.
¹³ Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital, 75015, Paris, France.
¹⁴ Imagine Institute, University of Paris, 75015, Paris, France.
¹⁵ Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
¹⁶ Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center and Rare Diseases Center, Childrens Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
¹⁷ Pediatric Department and Immunology Unit, Sheba Medical Center, Tel Aviv, Israel.
¹⁸ Division of Allergy Immunology, Department of Pediatrics, Childrens Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
¹⁹ Allen Institute for Immunology, Seattle, WA, USA.
²⁰ Department of Immunology and Microbiology, Laboratory for Inborn Errors of Immunity, Department of Pediatrics, University Hospitals Leuven and KU Leuven, 3000, Leuven, Belgium.

PMID: 33598806
PMCID: PMC7889474
DOI: 10.1007/s10875-021-00980-1

Abstract

The most recent updated classification of inborn errors of immunity/primary immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee, was published in January 2020. Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity. Herein, we highlight studies that have identified 26 additional monogenic gene defects that reach the threshold to represent novel causes of immune defects.

Keywords: Inborn errors of immunity; autoinflammatory disorders; immune dysregulation; primary immunodeficiencies.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

References

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The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Affiliations

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Research Materials