An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

Sara Gastoldi,Sistiana Aiello,Miriam Galbusera,Matteo Breno,Marta Alberti,Elena Bresin,Caterina Mele,Rossella Piras,Lucia Liguori,Donata Santarsiero,Ariela Benigni,Giuseppe Remuzzi,Marina Noris

Frontiers in immunology（2023）

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摘要

In conclusion, the serum-induced C5b-9 formation test in unaffected relatives of aHUS patients may be a tool for rapid functional evaluation of rare complement gene variants. When combined with exome sequencing the assay might be of help in variant selection, to identify new aHUS-associated genetic factors.

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关键词

aHUS,complement,endothelial C5b-9 formation,endothelial cells,rare variants

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