ArticleClinical genetics2022
Systemic inflammatory syndrome in children with FARSA deficiency.
Article in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Mitochondrial RNA-Type I Interferon Axis in Sjögren's Disease: Molecular Mechanisms and Translational Implications.International journal of molecular sciences · 2026Review
- Expanding the phenotypic spectrum of FARSA-related interstitial lung disease: a pediatric case series and literature review.European journal of pediatrics · 2026Review
- Interface dermatitis in a patient with TRNT1 deficiency: A case report.JAAD case reports · 2025Article
- Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.JIMD reports · 2025Article
- An update on diagnosis and treatments of childhood interstitial lung diseases.Breathe (Sheffield, England) · 2025Review
- Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.Journal of inherited metabolic disease · 2025Review
- Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.Molecular genetics & genomic medicine · 2025Article
- Efficacy of Ruxolitinib in Severe Pediatric Intra-Alveolar Hemorrhages Unrelated to COPA Mutations.Pediatric pulmonology · 2025Article
- Two Novel Biallelic Variants in theGenes · 2024Review
- Pulmonary fibrosis may begin in infancy: from childhood to adult interstitial lung disease.Thorax · 2024Review
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Development of Collateral Vessels after Anterior Circulation Large Vessel Occlusion in Pediatric Arterial Ischemic Stroke Relates to Stroke Etiology: A Longitudinal Study.AJNR. American journal of neuroradiology · 2024Article
- Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.BMC medical genomics · 2023Review
- Fatal systemic disorder caused by biallelic variants in FARSA.Orphanet journal of rare diseases · 2022Article
- Systemic inflammatory syndrome in children with FARSA deficiency.Clinical genetics · 2022Article
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Authors and funding
24 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 dysmorphism. 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, all 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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