International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Capucine Picard^{1

2}, H Bobby Gaspar³, Waleed Al-Herz⁴, Aziz Bousfiha⁵, Jean-Laurent Casanova^{6

7

8

9}, Talal Chatila¹⁰, Yanick J Crow^{11

12}, Charlotte Cunningham-Rundles¹³, Amos Etzioni¹⁴, Jose Luis Franco¹⁵, Steven M Holland¹⁶, Christoph Klein¹⁷, Tomohiro Morio¹⁸, Hans D Ochs¹⁹, Eric Oksenhendler²⁰, Jennifer Puck²¹, Mimi L K Tang^{22

23

24}, Stuart G Tangye^{25

26}, Troy R Torgerson¹⁹, Kathleen E Sullivan²⁷

Affiliations

¹ Center for the Study of Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
² Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris Descartes University, Paris, France.
³ UCL Great Ormond Street Institute of Child Health, London, UK.
⁴ Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
⁵ 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.
⁶ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
⁷ Howard Hughes Medical Institute, New York, NY, USA.
⁸ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, University Paris Descartes, Paris, France.
⁹ Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children APHP, Paris, France.
¹⁰ Division of Immunology, Children's Hospital Boston, Boston, MA, USA.
¹¹ Laboratory of Neuroinflammation and Neurogenetics, Necker Branch, INSERM UMR1163, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
¹² Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
¹³ Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, NewYork, NY, USA.
¹⁴ Ruth's Children's Hospital-Technion, Haifa, Israel.
¹⁵ Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
¹⁶ Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.
¹⁷ Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
¹⁸ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
¹⁹ Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.
²⁰ Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, University Paris Diderot, Sorbonne Paris Cité, Paris, France.
²¹ Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
²² Murdoch Children's Research Institute, Melbourne, VIC, Australia.
²³ Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
²⁴ Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.
²⁵ Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
²⁶ St Vincent's Clinical School, University of NSW, Sydney, Australia.
²⁷ Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, ARC 1216-I 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. sullivank@email.chop.edu.

PMID: 29226302
PMCID: PMC5742601
DOI: 10.1007/s10875-017-0464-9

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Capucine Picard et al. J Clin Immunol. 2018 Jan.

. 2018 Jan;38(1):96-128.

doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.

Authors

Affiliations

¹ Center for the Study of Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.
² Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris Descartes University, Paris, France.
³ UCL Great Ormond Street Institute of Child Health, London, UK.
⁴ Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
⁵ 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.
⁶ St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
⁷ Howard Hughes Medical Institute, New York, NY, USA.
⁸ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, University Paris Descartes, Paris, France.
⁹ Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children APHP, Paris, France.
¹⁰ Division of Immunology, Children's Hospital Boston, Boston, MA, USA.
¹¹ Laboratory of Neuroinflammation and Neurogenetics, Necker Branch, INSERM UMR1163, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
¹² Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
¹³ Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, NewYork, NY, USA.
¹⁴ Ruth's Children's Hospital-Technion, Haifa, Israel.
¹⁵ Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
¹⁶ Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.
¹⁷ Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
¹⁸ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
¹⁹ Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.
²⁰ Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, University Paris Diderot, Sorbonne Paris Cité, Paris, France.
²¹ Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
²² Murdoch Children's Research Institute, Melbourne, VIC, Australia.
²³ Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
²⁴ Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.
²⁵ Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
²⁶ St Vincent's Clinical School, University of NSW, Sydney, Australia.
²⁷ Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, ARC 1216-I 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. sullivank@email.chop.edu.

PMID: 29226302
PMCID: PMC5742601
DOI: 10.1007/s10875-017-0464-9

Abstract

Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee. The current report details the categorization and listing of 354 (as of February 2017) inborn errors of immunity. The growth and increasing complexity of the field have been impressive, encompassing an increasing variety of conditions, and the classification described here will serve as a critical reference for immunologists and researchers worldwide.

Keywords: IUIS; autoinflammatory disorders; immune dysregulation; primary immune deficiency.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

**Fig. 1**
Each publication of the World Health Organization and IUIS Primary Immunodeficiencies Committee was reviewed for the number of conditions listed and displayed graphically [–19]. The rapid increase in the twenty-first century relates to improved awareness and increasing use of sequencing. Assuming 20,000 coding genes in the human genome, inborn errors of immunity are implicated through mutations in 1.7% of these genes. There are now 330 specific disorders, 320 monogenic defects, 312 distinct genes (nine genes with both LOF and GOF and C4 deficiency requiring defects in both C4A and C4B). a The categorization of the inborn errors of immunity according the schema in the current manuscript. b The categorization of the inborn errors of immunity according to their inheritance

See this image and copyright information in PMC

References

1. Fudenberg H, Good RA, Goodman HC, Hitzig W, Kunkel HG, Roitt IM, Rosen FS, Rowe DS, Seligmann M, Soothill JR. Primary immunodeficiencies. Report of a World Health Organization Committee. Pediatrics. 1971;47:927–946. - PubMed
1. Fudenberg HH, Good RA, Hitzig W, Kunkel HG, Roitt IM, Rosen FS, Rowe DS, Seligmann M, Soothill JR. Classification of the primary immune deficiencies: WHO recommendation. N Engl J Med. 1970;283:656–657. doi: 10.1056/NEJM197009172831211. - DOI - PubMed
1. Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015;35:696–726. doi: 10.1007/s10875-015-0201-1. - DOI - PMC - PubMed
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1. Chandra R, Cooper M, Hitzig W, Rosen F, Seligmann M, Soothill JF, Terry R. WHO scientific group on immunodeficiencies. Clin Immunol Immunopathol. 1979;13:296–359. doi: 10.1016/0090-1229(79)90075-8. - DOI

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International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Affiliations

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical