Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2021006416
Abstract: Key Points • In CM-TMA, variants in specific genes/regions are associated with high risk of relapse after eculizumab is discontinued.• In CM-TMA, eculizumab discontinuation is appropriate in patients with a low risk of relapse. read more here.
Keywords: effect relapse; complement; relapse; complement gene ... See more keywords
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2019040433
Abstract: BACKGROUND Primary membranoproliferative GN, including complement 3 (C3) glomerulopathy, is a rare, untreatable kidney disease characterized by glomerular complement deposition. Complement gene mutations can cause familial C3 glomerulopathy, and studies have reported rare variants in… read more here.
Keywords: primary membranoproliferative; whole genome; complement gene; complement ... See more keywords
An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2023.1112257
Abstract: Introduction Comprehensive genetic analysis is essential to clinical care of patients with atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment. However, the characterization of complement gene variants remains challenging owing to… read more here.
Keywords: atypical haemolytic; haemolytic uremic; test; complement gene ... See more keywords