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

• Published in: Frontiers in immunology Vol. 14; p. 1112257
• Main Authors: Gastoldi, Sara, Aiello, Sistiana, Galbusera, Miriam, Breno, Matteo, Alberti, Marta, Bresin, Elena, Mele, Caterina, Piras, Rossella, Liguori, Lucia, Santarsiero, Donata, Benigni, Ariela, Remuzzi, Giuseppe, Noris, Marina
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 09.02.2023
• Subjects: aHUS; Atypical Hemolytic Uremic Syndrome - diagnosis; Atypical Hemolytic Uremic Syndrome - genetics; complement; Complement Membrane Attack Complex - genetics; Complement Membrane Attack Complex - metabolism; Complement System Proteins - genetics; Complement System Proteins - therapeutic use; endothelial C5b-9 formation; endothelial cells; Endothelial Cells - metabolism; Humans; Immunology; Pedigree; rare variants; rare variants; aHUS; endothelial cells; endothelial C5b-9 formation; complement

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 the complexity of functional studies with mu...