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dc.contributor.authorFranco Restrepo, José Luis-
dc.contributor.authorTangye, Stuart G-
dc.contributor.authorAl-Herz, Waleed-
dc.contributor.authorBousfiha, Aziz-
dc.contributor.authorCunningham Rundles, Charlotte-
dc.contributor.authorHolland, Steven M-
dc.contributor.authorKlein, Christoph-
dc.contributor.authorMorio, Tomohiro-
dc.contributor.authorOksenhendler, Eric-
dc.contributor.authorPicard, Capucine-
dc.contributor.authorPuel, Anne-
dc.contributor.authorPuck, Jennifer-
dc.contributor.authorSeppänen, Mikko R J-
dc.contributor.authorSomech, Raz-
dc.contributor.authorSu, Helen C-
dc.contributor.authorSullivan, Kathleen E-
dc.contributor.authorTorgerson, Troy R-
dc.contributor.authorMeyts, Isabelle-
dc.date.accessioned2024-07-09T19:15:44Z-
dc.date.available2024-07-09T19:15:44Z-
dc.date.issued2021-
dc.identifier.citationTangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee. J Clin Immunol. 2021 Apr;41(3):666-679. doi: 10.1007/s10875-021-00980-1spa
dc.identifier.issn0271-9142-
dc.identifier.urihttps://hdl.handle.net/10495/40494-
dc.description.abstractABSTRACT: 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 Within days of completing this report, it was already out of date, evidenced by the frequent publication of genetic variants proposed to cause novel inborn errors of immunity. As the next formal report from the IUIS Expert Committee will not be published until 2022, we felt it important to provide the community with a brief update of recent contributions to the field of inborn errors of immunity.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.spa
dc.format.extent14 páginasspa
dc.format.mimetypeapplication/pdfspa
dc.language.isoengspa
dc.publisherSpringerspa
dc.type.hasversioninfo:eu-repo/semantics/publishedVersionspa
dc.rightsinfo:eu-repo/semantics/openAccessspa
dc.rights.urihttp://creativecommons.org/licenses/by/2.5/co/*
dc.titleThe Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committeespa
dc.typeinfo:eu-repo/semantics/articlespa
dc.publisher.groupInmunodeficiencias Primariasspa
dc.identifier.doi10.1007/s10875-021-00980-1-
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85spa
dc.rights.accessrightshttp://purl.org/coar/access_right/c_abf2spa
dc.identifier.eissn1573-2592-
oaire.citationtitleJournal of Clinical Immunologyspa
oaire.citationstartpage666spa
oaire.citationendpage679spa
oaire.citationvolume41spa
oaire.citationissue3spa
dc.rights.creativecommonshttps://creativecommons.org/licenses/by/4.0/spa
oaire.fundernameInternational Union of Immunological Societiesspa
dc.publisher.placeÁmsterdam, Países Bajosspa
dc.type.coarhttp://purl.org/coar/resource_type/c_dcae04bcspa
dc.type.redcolhttps://purl.org/redcol/resource_type/ARTREVspa
dc.type.localArtículo de revisiónspa
dc.subject.decsAlleles-
dc.subject.decsAlelos-
dc.subject.decsDiagnosis, Differential-
dc.subject.decsDiagnóstico Diferencial-
dc.subject.decsCOVID-19-
dc.subject.decsDisease Management-
dc.subject.decsManejo de la Enfermedad-
dc.subject.decsGenetic Association Studies-
dc.subject.decsEstudios de Asociación Genética-
dc.subject.decsGenetic Predisposition to Disease-
dc.subject.decsPredisposición Genética a la Enfermedad-
dc.subject.decsGenotype-
dc.subject.decsGenotipo-
dc.subject.decsImmunity-
dc.subject.decsInmunidad-
dc.subject.decsInheritance Patterns-
dc.subject.decsPatrón de Herencia-
dc.subject.decsPhenotype-
dc.subject.decsFenotipo-
dc.subject.decsPrimary Immunodeficiency Diseases-
dc.subject.decsEnfermedades de Inmunodeficiencia Primaria-
dc.subject.decsPublic Health Surveillance-
dc.subject.decsVigilancia en Salud Pública-
dc.subject.decsRisk Factors-
dc.subject.decsFactores de Riesgo-
dc.description.researchgroupidCOL0012426spa
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D000483-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D003937-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D000086382-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D019468-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D056726-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D020022-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D005838-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D007109-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D040582-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D010641-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D000081207-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D062486-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D012307-
dc.relation.ispartofjournalabbrevJ. Clin. Immunol.spa
oaire.funderidentifier.rorRoR:02exzyx31-
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