RT Journal Article
T1 Immunological features of patients affected by Barraquer-Simons syndrome
A1 Corvillo, Fernando
A1 Ceccarini, Giovanni
A1 Nozal, Pilar
A1 Magno, Silvia
A1 Pelosini, Caterina
A1 Garrido, Sofía
A1 López Lera, Alberto
A1 Moraru, Manuela
A1 Vilches, Carlos
A1 Fornaciari, Silvia
A1 Gabbriellini, Sabrina
A1 Santini, Ferruccio
A1 Araujo-Vilar, David
A1 López Trascasa, Margarita
K1 Complement system
K1 Lipodystrophy
K1 C3 nephritic factor
K1 Autoimmunity
K1 Acquired partial lipodystrophy
K1 Barraquer-Simons syndrome
AB C3 hypocomplementemia and the presence of C3 nephritic factor (C3NeF), an autoantibody causingcomplement system over-activation, are common features among most patients affected by Barraquer-Simonssyndrome (BSS), an acquired form of partial lipodystrophy. Moreover, BSS is frequently associated with autoimmunediseases. However, the relationship between complement system dysregulation and BSS remains to be fullyelucidated. The aim of this study was to provide a comprehensive immunological analysis of the complementsystem status, autoantibody signatures and HLA profile in BSS. Thirteen subjects with BSS were recruited for thestudy. The circulating levels of complement components, C3, C4, Factor B (FB) and Properdin (P), as well as anextended autoantibody profile including autoantibodies targeting complement components and regulators wereassessed in serum. Additionally, HLA genotyping was carried out using DNA extracted from peripheral bloodmononuclear cells
PB BMC
YR 2020
FD 2020
LK http://hdl.handle.net/10347/21692
UL http://hdl.handle.net/10347/21692
LA eng
NO 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
NO 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.)
DS Minerva
RD 28 abr 2026