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

Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Kathleen E Sullivan, Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Kathleen E Sullivan

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.

Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Fig. 1
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

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.
    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.
    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.
    1. Anonymous Primary immunodeficiency diseases. Report of a WHO scientific group. Clin Exp Immunol. 1997;109(Suppl 1):1–28.
    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.
    1. Gatti R. On the classification of patients with primary immunodeficiency disorders. Clin Immunol Immunopathol. 1974;3:243–247. doi: 10.1016/0090-1229(74)90010-5.
    1. Cooper M, Faulk W, Fudenberg H, Good R, Hitzig W, Kunkel H, Roitt I, Rosen F, Seligmann M, Soothill J. Meeting report of the second international workshop on primary immunodeficiency diseases in man. Clin Immunol Immunopathol. 1974;2:416–445. doi: 10.1016/0090-1229(74)90059-2.
    1. Anonymous Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin Exp Immunol. 1999;118(Suppl 1):1–28.
    1. Immunodeficiency WSGo: meeting report primary immunodeficiency diseases. Clinical Immunology and Immunopathology 28: 450–475, 1983.
    1. Rosen F, Wedgewood R, Eibl M. Primary immunodeficiency diseases. Clin Immunol Immunopathol. 1986;40:166–196. doi: 10.1016/0090-1229(86)90082-6.
    1. Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML. The 2015 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol. 2015;35:727–738. doi: 10.1007/s10875-015-0198-5.
    1. Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol. 2013;33:1078–1087. doi: 10.1007/s10875-013-9901-6.
    1. Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin Exp Immunol 118 Suppl 1: 1–28, 1999.
    1. Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification C Primary immunodeficiency diseases: an update. J Allergy Clin Immunol. 2004;114:677–687. doi: 10.1016/j.jaci.2004.06.044.
    1. Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification C Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol. 2006;117:883–896. doi: 10.1016/j.jaci.2005.12.1347.
    1. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J, International Union of Immunological Societies Primary Immunodeficiency Diseases Classification C Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007;120:776–794. doi: 10.1016/j.jaci.2007.08.053.
    1. International Union of Immunological Societies Expert Committee on Primary I. Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124:1161–1178. doi: 10.1016/j.jaci.2009.10.013.
    1. Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman CM, Seger R, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:54. doi: 10.3389/fimmu.2011.00054.
    1. Primary immunodeficiency diseases. Report of a WHO Scientific Group. Clin Exp Immunol 99 Suppl 1: 1–24, 1995.
    1. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rodningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjonnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordoy I, Jorgensen SF, Abrahamsen TG, Overland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flato B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017;139:232–245. doi: 10.1016/j.jaci.2016.05.042.
    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;211:2137–2149. doi: 10.1084/jem.20140520.
    1. Boufiha A, Phenotypical classification of PIDD. 2017. .
    1. Bousfiha A, Phenotypical classification of PIDD, iTunes. 2017. .
    1. OMIM Online Mendelian Inheritance in Man. .

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