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Journal Articles Clinical Genetics Year : 2022

Systemic inflammatory syndrome in children with FARSA deficiency

David Drummond


Variants in aminoacyl-tRNA synthetases (ARSs) genes are associated to a broad spectrum of human inherited diseases. Patients with defective PheRS, encoded by FARSA and FARSB, display brain abnormalities, interstitial lung disease and facial dys- morphism. We investigated four children from two unrelated consanguineous families carrying two missense homozygous variants in FARSA with significantly reduced PheRS-mediated aminoacylation activity. In addition to the core ARS-phenotype, patients showed an inflammatory profile associated with autoimmunity and interferon score, a clinical feature not ascribed to PheRS-deficient patients to date. JAK inhibition improved lung disease in one patient. Our findings expand the genetic and clinical spectrum of FARSA-related disease
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Dates and versions

inserm-03790743 , version 1 (28-09-2022)



Fabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, Marc Mirande, Jérémy Berthelet, et al.. Systemic inflammatory syndrome in children with FARSA deficiency. Clinical Genetics, 2022, 101 (5-6), pp.552-558. ⟨10.1111/cge.14120⟩. ⟨inserm-03790743⟩
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