Immunological features of patients affected by Barraquer-Simons syndrome

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dc.contributor.affiliationUniversidade de Santiago de Compostela. Centro de Investigación en Medicina Molecular e Enfermidades Crónicasgl
dc.contributor.affiliationUniversidade de Santiago de Compostela. Departamento de Psiquiatría, Radioloxía, Saúde Pública, Enfermaría e Medicinagl
dc.contributor.authorCorvillo, Fernando
dc.contributor.authorCeccarini, Giovanni
dc.contributor.authorNozal, Pilar
dc.contributor.authorMagno, Silvia
dc.contributor.authorPelosini, Caterina
dc.contributor.authorGarrido, Sofía
dc.contributor.authorLópez Lera, Alberto
dc.contributor.authorMoraru, Manuela
dc.contributor.authorVilches, Carlos
dc.contributor.authorFornaciari, Silvia
dc.contributor.authorGabbriellini, Sabrina
dc.contributor.authorSantini, Ferruccio
dc.contributor.authorAraujo-Vilar, David
dc.contributor.authorLópez Trascasa, Margarita
dc.date.accessioned2020-04-23T17:49:35Z
dc.date.available2020-04-23T17:49:35Z
dc.date.issued2020
dc.description.abstractC3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causing complement system over-activation, are common features among most patients affected by Barraquer-Simons syndrome (BSS), an acquired form of partial lipodystrophy. Moreover, BSS is frequently associated with autoimmune diseases. However, the relationship between complement system dysregulation and BSS remains to be fully elucidated. The aim of this study was to provide a comprehensive immunological analysis of the complement system status, autoantibody signatures and HLA profile in BSS. Thirteen subjects with BSS were recruited for the study. The circulating levels of complement components, C3, C4, Factor B (FB) and Properdin (P), as well as an extended autoantibody profile including autoantibodies targeting complement components and regulators were assessed in serum. Additionally, HLA genotyping was carried out using DNA extracted from peripheral blood mononuclear cellsgl
dc.description.peerreviewedSIgl
dc.description.sponsorshipThis work was supported by Instituto de Salud Carlos III (Ministerio de Ciencia, Innovación y Universidades, Gobierno de España) and Fondos FEDER (PI15–00255 to M.L-T. and PI08–1449 to D.A-V.), Complemento II-CM network (B2017/BMD3673 to M.L-T), the intramural research program of the Xunta de Galicia (Programa de Consolidación e Estructuración de Unidades de Investigación Competitivas, grant ED341b 2017/19 to D.A-V.), the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP) (to D.A-V., to F.C. and to P.N.)gl
dc.identifier.citationCorvillo, F., Ceccarini, G., Nozal, P. et al. Immunological features of patients affected by Barraquer-Simons syndrome. Orphanet J Rare Dis 15, 9 (2020). https://doi.org/10.1186/s13023-019-1292-1gl
dc.identifier.doi10.1186/s13023-019-1292-1
dc.identifier.essn1750-1172
dc.identifier.urihttp://hdl.handle.net/10347/21692
dc.language.isoenggl
dc.publisherBMCgl
dc.relation.publisherversionhttps://doi.org/10.1186/s13023-019-1292-1gl
dc.rights© The Author(s). 2020 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise statedgl
dc.rights.accessRightsopen accessgl
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectComplement systemgl
dc.subjectLipodystrophygl
dc.subjectC3 nephritic factorgl
dc.subjectAutoimmunitygl
dc.subjectAcquired partial lipodystrophygl
dc.subjectBarraquer-Simons syndromegl
dc.titleImmunological features of patients affected by Barraquer-Simons syndromegl
dc.typejournal articlegl
dc.type.hasVersionVoRgl
dspace.entity.typePublication
relation.isAuthorOfPublication940b4585-ffa5-4468-9245-f1ea22e28a62
relation.isAuthorOfPublication.latestForDiscovery940b4585-ffa5-4468-9245-f1ea22e28a62

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