Corvillo, FernandoCeccarini, GiovanniNozal, PilarMagno, SilviaPelosini, CaterinaGarrido, SofíaLópez Lera, AlbertoMoraru, ManuelaVilches, CarlosFornaciari, SilviaGabbriellini, SabrinaSantini, FerruccioAraujo-Vilar, DavidLópez Trascasa, Margarita2020-04-232020-04-232020Corvillo, 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/s13023-019-1292-1http://hdl.handle.net/10347/21692C3 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 cellseng© 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 statedhttps://creativecommons.org/licenses/by/4.0/Complement systemLipodystrophyC3 nephritic factorAutoimmunityAcquired partial lipodystrophyBarraquer-Simons syndromejournal article10.1186/s13023-019-1292-11750-1172open access