The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

ABSTRACT: Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologi...

Full description

Autores:
Bousfiha, Aziz
Jeddane, Leïla
Picard, Capucine
Ailal, Fatima
Gaspar, H. Bobby
Franco Restrepo, José Luis
Tipo de recurso:
Article of investigation
Fecha de publicación:
2017
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/23080
Acceso en línea:
http://hdl.handle.net/10495/23080
Palabra clave:
Síndromes de Inmunodeficiencia
Immunologic Deficiency Syndromes
Clasificación
Classification
Phenotypic
Inborn errors of immunity
Unión Internacional de las Sociedades Inmunológicas (IUIS)
Fenotípica
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc/2.5/co/
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oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/23080
network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
title The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
spellingShingle The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
Síndromes de Inmunodeficiencia
Immunologic Deficiency Syndromes
Clasificación
Classification
Phenotypic
Inborn errors of immunity
Unión Internacional de las Sociedades Inmunológicas (IUIS)
Fenotípica
title_short The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
title_full The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
title_fullStr The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
title_full_unstemmed The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
title_sort The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
dc.creator.fl_str_mv Bousfiha, Aziz
Jeddane, Leïla
Picard, Capucine
Ailal, Fatima
Gaspar, H. Bobby
Franco Restrepo, José Luis
dc.contributor.author.none.fl_str_mv Bousfiha, Aziz
Jeddane, Leïla
Picard, Capucine
Ailal, Fatima
Gaspar, H. Bobby
Franco Restrepo, José Luis
dc.subject.decs.none.fl_str_mv Síndromes de Inmunodeficiencia
Immunologic Deficiency Syndromes
Clasificación
Classification
topic Síndromes de Inmunodeficiencia
Immunologic Deficiency Syndromes
Clasificación
Classification
Phenotypic
Inborn errors of immunity
Unión Internacional de las Sociedades Inmunológicas (IUIS)
Fenotípica
dc.subject.proposal.spa.fl_str_mv Phenotypic
Inborn errors of immunity
Unión Internacional de las Sociedades Inmunológicas (IUIS)
Fenotípica
description ABSTRACT: Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.
publishDate 2017
dc.date.issued.none.fl_str_mv 2017
dc.date.accessioned.none.fl_str_mv 2021-10-10T15:15:09Z
dc.date.available.none.fl_str_mv 2021-10-10T15:15:09Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.citation.spa.fl_str_mv Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8.
dc.identifier.issn.none.fl_str_mv 0271-9142
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/23080
dc.identifier.doi.none.fl_str_mv 10.1007/s10875-017-0465-8
dc.identifier.eissn.none.fl_str_mv 1573-2592
identifier_str_mv Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8.
0271-9142
10.1007/s10875-017-0465-8
1573-2592
url http://hdl.handle.net/10495/23080
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv J. Clin. Immunol.
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
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eu_rights_str_mv openAccess
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dc.format.extent.spa.fl_str_mv 15
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Springer
dc.publisher.group.spa.fl_str_mv Inmunodeficiencias Primarias
institution Universidad de Antioquia
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spelling Bousfiha, AzizJeddane, LeïlaPicard, CapucineAilal, FatimaGaspar, H. BobbyFranco Restrepo, José Luis2021-10-10T15:15:09Z2021-10-10T15:15:09Z2017Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8.0271-9142http://hdl.handle.net/10495/2308010.1007/s10875-017-0465-81573-2592ABSTRACT: Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.COL001242615application/pdfengSpringerInmunodeficiencias Primariasinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by/4.0/The 2017 IUIS Phenotypic Classification for Primary ImmunodeficienciesSíndromes de InmunodeficienciaImmunologic Deficiency SyndromesClasificaciónClassificationPhenotypicInborn errors of immunityUnión Internacional de las Sociedades Inmunológicas (IUIS)FenotípicaJ. Clin. Immunol.Journal of Clinical Immunology129143381CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8933http://bibliotecadigital.udea.edu.co/bitstream/10495/23080/1/license_rdfc0c92b0ffc8b7d22d9cf56754a416a76MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/23080/2/license.txt8a4605be74aa9ea9d79846c1fba20a33MD52ORIGINALFrancoJose_2018_PhenotypicClassification.pdfFrancoJose_2018_PhenotypicClassification.pdfArtículo de investigaciónapplication/pdf1353089http://bibliotecadigital.udea.edu.co/bitstream/10495/23080/3/FrancoJose_2018_PhenotypicClassification.pdf0d1d6793703ad10ce5e4600c9d61c485MD5310495/23080oai:bibliotecadigital.udea.edu.co:10495/230802021-10-10 10:15:10.509Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.coTk9URTogUExBQ0UgWU9VUiBPV04gTElDRU5TRSBIRVJFClRoaXMgc2FtcGxlIGxpY2Vuc2UgaXMgcHJvdmlkZWQgZm9yIGluZm9ybWF0aW9uYWwgcHVycG9zZXMgb25seS4KCk5PTi1FWENMVVNJVkUgRElTVFJJQlVUSU9OIExJQ0VOU0UKCkJ5IHNpZ25pbmcgYW5kIHN1Ym1pdHRpbmcgdGhpcyBsaWNlbnNlLCB5b3UgKHRoZSBhdXRob3Iocykgb3IgY29weXJpZ2h0Cm93bmVyKSBncmFudHMgdG8gRFNwYWNlIFVuaXZlcnNpdHkgKERTVSkgdGhlIG5vbi1leGNsdXNpdmUgcmlnaHQgdG8gcmVwcm9kdWNlLAp0cmFuc2xhdGUgKGFzIGRlZmluZWQgYmVsb3cpLCBhbmQvb3IgZGlzdHJpYnV0ZSB5b3VyIHN1Ym1pc3Npb24gKGluY2x1ZGluZwp0aGUgYWJzdHJhY3QpIHdvcmxkd2lkZSBpbiBwcmludCBhbmQgZWxlY3Ryb25pYyBmb3JtYXQgYW5kIGluIGFueSBtZWRpdW0sCmluY2x1ZGluZyBidXQgbm90IGxpbWl0ZWQgdG8gYXVkaW8gb3IgdmlkZW8uCgpZb3UgYWdyZWUgdGhhdCBEU1UgbWF5LCB3aXRob3V0IGNoYW5naW5nIHRoZSBjb250ZW50LCB0cmFuc2xhdGUgdGhlCnN1Ym1pc3Npb24gdG8gYW55IG1lZGl1bSBvciBmb3JtYXQgZm9yIHRoZSBwdXJwb3NlIG9mIHByZXNlcnZhdGlvbi4KCllvdSBhbHNvIGFncmVlIHRoYXQgRFNVIG1heSBrZWVwIG1vcmUgdGhhbiBvbmUgY29weSBvZiB0aGlzIHN1Ym1pc3Npb24gZm9yCnB1cnBvc2VzIG9mIHNlY3VyaXR5LCBiYWNrLXVwIGFuZCBwcmVzZXJ2YXRpb24uCgpZb3UgcmVwcmVzZW50IHRoYXQgdGhlIHN1Ym1pc3Npb24gaXMgeW91ciBvcmlnaW5hbCB3b3JrLCBhbmQgdGhhdCB5b3UgaGF2ZQp0aGUgcmlnaHQgdG8gZ3JhbnQgdGhlIHJpZ2h0cyBjb250YWluZWQgaW4gdGhpcyBsaWNlbnNlLiBZb3UgYWxzbyByZXByZXNlbnQKdGhhdCB5b3VyIHN1Ym1pc3Npb24gZG9lcyBub3QsIHRvIHRoZSBiZXN0IG9mIHlvdXIga25vd2xlZGdlLCBpbmZyaW5nZSB1cG9uCmFueW9uZSdzIGNvcHlyaWdodC4KCklmIHRoZSBzdWJtaXNzaW9uIGNvbnRhaW5zIG1hdGVyaWFsIGZvciB3aGljaCB5b3UgZG8gbm90IGhvbGQgY29weXJpZ2h0LAp5b3UgcmVwcmVzZW50IHRoYXQgeW91IGhhdmUgb2J0YWluZWQgdGhlIHVucmVzdHJpY3RlZCBwZXJtaXNzaW9uIG9mIHRoZQpjb3B5cmlnaHQgb3duZXIgdG8gZ3JhbnQgRFNVIHRoZSByaWdodHMgcmVxdWlyZWQgYnkgdGhpcyBsaWNlbnNlLCBhbmQgdGhhdApzdWNoIHRoaXJkLXBhcnR5IG93bmVkIG1hdGVyaWFsIGlzIGNsZWFybHkgaWRlbnRpZmllZCBhbmQgYWNrbm93bGVkZ2VkCndpdGhpbiB0aGUgdGV4dCBvciBjb250ZW50IG9mIHRoZSBzdWJtaXNzaW9uLgoKSUYgVEhFIFNVQk1JU1NJT04gSVMgQkFTRUQgVVBPTiBXT1JLIFRIQVQgSEFTIEJFRU4gU1BPTlNPUkVEIE9SIFNVUFBPUlRFRApCWSBBTiBBR0VOQ1kgT1IgT1JHQU5JWkFUSU9OIE9USEVSIFRIQU4gRFNVLCBZT1UgUkVQUkVTRU5UIFRIQVQgWU9VIEhBVkUKRlVMRklMTEVEIEFOWSBSSUdIVCBPRiBSRVZJRVcgT1IgT1RIRVIgT0JMSUdBVElPTlMgUkVRVUlSRUQgQlkgU1VDSApDT05UUkFDVCBPUiBBR1JFRU1FTlQuCgpEU1Ugd2lsbCBjbGVhcmx5IGlkZW50aWZ5IHlvdXIgbmFtZShzKSBhcyB0aGUgYXV0aG9yKHMpIG9yIG93bmVyKHMpIG9mIHRoZQpzdWJtaXNzaW9uLCBhbmQgd2lsbCBub3QgbWFrZSBhbnkgYWx0ZXJhdGlvbiwgb3RoZXIgdGhhbiBhcyBhbGxvd2VkIGJ5IHRoaXMKbGljZW5zZSwgdG8geW91ciBzdWJtaXNzaW9uLgo=