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Monogenic polyautoimmunity in primary immunodeficiency diseases

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dc.creatorAzizi G.spa
dc.creatorYazdani R.spa
dc.creatorRae W.spa
dc.creatorAbolhassani H.spa
dc.creatorRojas M.spa
dc.creatorAghamohammadi A.spa
dc.creatorAnaya, Juan-Manuelspa
dc.date.accessioned2020-05-26T00:00:56Z
dc.date.available2020-05-26T00:00:56Z
dc.date.created2018spa
dc.description.abstractPrimary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations in genes that are critical for the regulation of immunological tolerance and immune responses. This group of monogenic PIDs is at high risk of developing polyautoimmunity (i.e., the presence of more than one autoimmune disease in a single patient) because of their impaired immunity. In this review, we discuss the mechanisms of autoimmunity in PIDs and the characteristics of polyautoimmunity in the following PIDs: IPEX; monogenic IPEX-like syndrome; LRBA deficiency; CTLA4 deficiency; APECED; ALPS; and PKC? deficiency. © 2018 Elsevier B.V.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.autrev.2018.05.001
dc.identifier.issn15689972
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23289
dc.language.isoengspa
dc.publisherElsevier B.V.spa
dc.relation.citationEndPage1039
dc.relation.citationIssueNo. 10
dc.relation.citationStartPage1028
dc.relation.citationTitleAutoimmunity Reviews
dc.relation.citationVolumeVol. 17
dc.relation.ispartofAutoimmunity Reviews, ISSN:15689972, Vol.17, No.10 (2018); pp. 1028-1039spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85051630742&doi=10.1016%2fj.autrev.2018.05.001&partnerID=40&md5=85a9be6919570ac6a8f5cd21338888d8spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordInterleukin 2 receptor alphaspa
dc.subject.keywordsignal transducingeng
dc.subject.keywordStat proteinspa
dc.subject.keywordTranscription factorspa
dc.subject.keywordTranscription factor bch2spa
dc.subject.keywordUbiquitin protein ligase e3spa
dc.subject.keywordUnclassified drugspa
dc.subject.keywordSignal transducing adaptor proteinspa
dc.subject.keywordActivated phosphoinositide 3 kinase delta syndromespa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordAutoimmune lymphoproliferative syndromespa
dc.subject.keywordAutoimmune polyendocrinopathy candidiasis ectodermal dystrophyspa
dc.subject.keywordAutoimmune polyglandular syndromespa
dc.subject.keywordCytotoxic t lymphocyte antigen 4 deficiencyspa
dc.subject.keywordGene mutationspa
dc.subject.keywordHaploinsufficiencyspa
dc.subject.keywordHumanspa
dc.subject.keywordImmune deficiencyspa
dc.subject.keywordIpex syndromespa
dc.subject.keywordItchy e3 ubiquitin protein ligase deficiencyspa
dc.subject.keywordJak-stat signalingspa
dc.subject.keywordLps responsive beige like anchor protein deficiencyspa
dc.subject.keywordMonogenic disorderspa
dc.subject.keywordNonhumanspa
dc.subject.keywordOmenn syndromespa
dc.subject.keywordPathogenesisspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPolyautoimmunityspa
dc.subject.keywordPrimary immunodeficiency diseasespa
dc.subject.keywordProtein expressionspa
dc.subject.keywordProtein kinase c delta deficiencyspa
dc.subject.keywordReviewspa
dc.subject.keywordAnimalspa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordGeneticsspa
dc.subject.keywordImmune deficiencyspa
dc.subject.keywordImmunological tolerancespa
dc.subject.keywordImmunologyspa
dc.subject.keywordMutationspa
dc.subject.keywordPathophysiologyspa
dc.subject.keywordAdaptor proteinseng
dc.subject.keywordAnimalsspa
dc.subject.keywordAutoimmune diseasesspa
dc.subject.keywordHumansspa
dc.subject.keywordImmune tolerancespa
dc.subject.keywordImmunologic deficiency syndromesspa
dc.subject.keywordMutationspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordCtla4spa
dc.subject.keywordIpexspa
dc.subject.keywordLrbaspa
dc.subject.keywordPolyautoimmunityspa
dc.subject.keywordPolyglandular autoimmune syndromesspa
dc.subject.keywordPrimary immunodeficiencyspa
dc.subject.keywordRegulatory t cellspa
dc.titleMonogenic polyautoimmunity in primary immunodeficiency diseasesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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