Immunological features of patients affected by Barraquer-Simons syndrome
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Abstract
C3 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 cells
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Corvillo, 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/s13023-019-1292-1
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https://doi.org/10.1186/s13023-019-1292-1Sponsors
This 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.)
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© 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 stated