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Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency

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dc.creatorAzizi G.spa
dc.creatorAbolhassani H.spa
dc.creatorZaki-Dizaji M.spa
dc.creatorHabibi S.spa
dc.creatorMohammadi H.spa
dc.creatorShaghaghi M.spa
dc.creatorYazdani R.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorRezaei N.spa
dc.creatorHammarström L.spa
dc.creatorAghamohammadi A.spa
dc.date.accessioned2020-05-26T00:11:08Z
dc.date.available2020-05-26T00:11:08Z
dc.date.created2018spa
dc.description.abstractBackground: Polyautoimmunity is defined as the presence of more than one autoimmune disorder in a single patient. Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) deficiency is one of the monogenic causes of polyautoimmunity. The aim of this study was to report the characteristics of polyautoimmunity in patients with LRBA deficiency. Methods: A total of 14 LRBA deficiency patients with confirmed autoimmunity were enrolled in this study. For those patients with polyautoimmunity, demographic information, clinical records, laboratory, and molecular data were collected. We also compared our results with the currently reported patients with LRBA deficiency associated with polyautoimmunity. Results: In 64.2% (9 out of 14) of patients, autoimmunity presented as polyautoimmunity. In these patients, autoimmune cytopenias were the most frequent complication, observed in seven patients. Three patients presented with four different types of autoimmune conditions. The review of the literature showed that 41 of 72 reported LRBA deficient patients (74.5%) had also polyautoimmunity, with a wide spectrum of autoimmune diseases described. Hematopoietic stem cell transplantation is increasingly used as the treatment for patients with severe polyautoimmunity associated to LRBA deficiency. Conclusions: Mutation in LRBA gene is one of the causes of monogenic polyautoimmunity. Awareness of this association is important in order to make an early diagnosis and prompt treatment. © 2018, © 2018 Taylor and Francis.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1080/08820139.2018.1446978
dc.identifier.issn15324311
dc.identifier.issn08820139
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24283
dc.language.isoengspa
dc.publisherTaylor and Francis Ltdspa
dc.relation.citationEndPage467
dc.relation.citationIssueNo. 5
dc.relation.citationStartPage457
dc.relation.citationTitleImmunological Investigations
dc.relation.citationVolumeVol. 47
dc.relation.ispartofImmunological Investigations, ISSN:15324311, 08820139, Vol.47, No.5 (2018); pp. 457-467spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85043677680&doi=10.1080%2f08820139.2018.1446978&partnerID=40&md5=2b465934d35446e95ef73e7a524bf391spa
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.keywordCyclosporinespa
dc.subject.keywordsignal transducingeng
dc.subject.keywordHydroxychloroquinespa
dc.subject.keywordhumaneng
dc.subject.keywordImmunoglobulinspa
dc.subject.keywordInfliximabspa
dc.subject.keywordPrednisolonespa
dc.subject.keywordRapamycinspa
dc.subject.keywordRituximabspa
dc.subject.keywordSalazosulfapyridinespa
dc.subject.keywordLipopolysaccharidespa
dc.subject.keywordLrba proteineng
dc.subject.keywordSignal transducing adaptor proteinspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordAutoimmune hemolytic anemiaspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordClinical articlespa
dc.subject.keywordControlled studyspa
dc.subject.keywordCytopeniaspa
dc.subject.keywordDrug megadosespa
dc.subject.keywordFemalespa
dc.subject.keywordGastritisspa
dc.subject.keywordGenespa
dc.subject.keywordHematopoietic stem cell transplantationspa
dc.subject.keywordHumanspa
dc.subject.keywordIdiopathic thrombocytopenic purpuraspa
dc.subject.keywordInflammatory bowel diseasespa
dc.subject.keywordJuvenile rheumatoid arthritisspa
dc.subject.keywordLipopolysaccharide responsive beige like anchor deficiencyspa
dc.subject.keywordLipopolysaccharide responsive beige like anchor genespa
dc.subject.keywordLow drug dosespa
dc.subject.keywordMalespa
dc.subject.keywordPolyautoimmunityspa
dc.subject.keywordPriority journalspa
dc.subject.keywordVitiligospa
dc.subject.keywordYoung adultspa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordBiologyspa
dc.subject.keywordChildspa
dc.subject.keywordDeficiencyspa
dc.subject.keywordGeneticsspa
dc.subject.keywordImmunologyspa
dc.subject.keywordMultimodality cancer therapyspa
dc.subject.keywordMutationspa
dc.subject.keywordProceduresspa
dc.subject.keywordRegisterspa
dc.subject.keywordSymptom assessmentspa
dc.subject.keywordAdaptor proteinseng
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAutoimmune diseasesspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordChildspa
dc.subject.keywordCombined modality therapyspa
dc.subject.keywordComputational biologyspa
dc.subject.keywordFemalespa
dc.subject.keywordHumansspa
dc.subject.keywordLipopolysaccharidesspa
dc.subject.keywordMalespa
dc.subject.keywordMutationspa
dc.subject.keywordRegistriesspa
dc.subject.keywordSymptom assessmentspa
dc.subject.keywordYoung adultspa
dc.subject.keywordAutoimmune cytopeniaspa
dc.subject.keywordLps-responsive beige-like anchorspa
dc.subject.keywordMultiple autoimmune syndromespa
dc.subject.keywordPolyautoimmunityspa
dc.titlePolyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiencyspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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