Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, Roux CJ, Boddaert N, Drabent P, Molina TJ, Lacaille F, Kossorotoff M, Cerf-Bensussan N, Parlato M, Hadchouel A.
Charbit-Henrion F, et al.
Clin Genet. 2022 May;101(5-6):552-558. doi: 10.1111/cge.14120. Epub 2022 Feb 17.
Clin Genet. 2022.
PMID: 35132614
Free PMC article.
We investigated four children from two unrelated consanguineous families carrying two missense homozygous variants in FARSA with significantly reduced PheRS-mediated aminoacylation activity. ...JAK inhibition improved lung disease in one patient. Our findings expand the ge …
We investigated four children from two unrelated consanguineous families carrying two missense homozygous variants in FARSA with sign …