De novo gain-of-function variations in LYN lead to an early onset systemic autoinflammatory disorder.

Camille LouvrierElma El KhouriMartine Grall LeroseyPierre QuartierAnne-Marie GuerrotBrigitte Bader MeunierJulie ChicanMalaïka MohammadEman AssrawiAphrodite DaskalopoulouAngela Arenas GarciaBruno CopinWilliam PiterbothFlorence Dastot Le MoalSonia-Athina KarabinaSerge AmselemIrina Giurgea

Published in: Arthritis & rheumatology (Hoboken, N.J.) (2022)

This study, which demonstrates the pathogenicity of the first three LYN variations identified in SAID patients, delineates the phenotypic spectrum of a disease entity characterized by an early onset severe inflammatory disease affecting neonates with no family history of SAID. All three variations affect the same tyrosine residue located in the C-terminus of Lyn, thereby underlining the critical role of this residue in the proper regulation of Lyn activity in humans.

Keyphrases

early onset
late onset
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
oxidative stress
escherichia coli
cystic fibrosis
drug induced
preterm birth