ArticlePediatric rheumatology online journal2016
Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course.
Article in Pediatric rheumatology online journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- A novel LACC1 variant c.658G>A (p. Asp220Asn) in familial juvenile arthritis: identification and functional analysis.Human genomics · 2025Article
- Crohn's Disease-associated variant in laccase domain containing 1 (LACC1) modulates T cell gene expression, metabolism and T cell function.Nature communications · 2025Article
- Isocyanic acid-mediated NLRP3 carbamoylation reduces NLRP3-NEK7 interaction and limits inflammasome activation.Science advances · 2025Article
- Purine metabolite inosine induced by transforming growth factor‑β promotes epithelial‑mesenchymal transition in colorectal cancer.Oncology letters · 2024Article
- New discoveries in the genetics and genomics of systemic juvenile idiopathic arthritis.Expert review of clinical immunology · 2024Review
- [Monogenic variants in Laccase domain-containing 1 (LACC1) as the cause of juvenile arthritis].Zeitschrift fur Rheumatologie · 2024Review
- Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.Molecular genetics & genomic medicine · 2023Review
- Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis.International journal of molecular sciences · 2023Review
- Article
- Whole exome sequencing in a juvenile idiopathic arthritis large family with SERPINA1 gene mutations.BMC rheumatology · 2022Article
- LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.The Journal of experimental medicine · 2021Article
- New or vanishing frontiers:International journal of pediatrics & adolescent medicine · 2021Article
- Review
- Implications of juvenile idiopathic arthritis genetic risk variants for disease pathogenesis and classification.Current opinion in rheumatology · 2019Review
- Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.Scientific reports · 2019Article
- Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.Frontiers in immunology · 2019Review
- Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1.International immunology · 2018Review
- The profile of polyunsaturated fatty acids in juvenile idiopathic arthritis and association with disease activity.Clinical rheumatology · 2017Article
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Authors and funding
8 authors.
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Abstract
backgroundThe pathophysiological origin of juvenile idiopathic arthritis (JIA) is largely unknown. However, individuals with presumably pathogenic mutations in FAMIN have been reported, associating this gene with a rare subtype of this disorder. FAMIN, that is formerly also referred to as LACC1 or C13orf31, has recently been shown to play a crucial role in immune-metabolic functions and is involved in regulation of inflammasome activation and promotion of ROS production. CASE PRESENTATION: We describe two siblings with severe familial forms of juvenile arthritis in which whole-exome-sequencing revealed a novel homozygous frameshift mutation (NM_153218.2:c.827delC¸. p.(T276fs*2) in FAMIN.
conclusionsThe observation of a new deleterious mutation adds further evidence that pathogenic mutations in FAMIN are causal for a monogenic form of JIA. Furthermore the associated phenotype is not restricted to systemic JIA, but can also be found in other forms of familial juvenile arthritis.
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