ArticleScientific reports2019
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Rare variant analysis of whole genome sequenced juvenile idiopathic arthritis multiplex pedigrees identifies rare variants in NOD2 and ACVR1.G3 (Bethesda, Md.) · 2026Article
- 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
- The research progress of LACC1.Frontiers in immunology · 2025Review
- [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
- Long-term presence of autoantibodies in plasma of cured leprosy patients.Scientific reports · 2023Article
- Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.Frontiers in medicine · 2023Article
- IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.Nature reviews. Rheumatology · 2022Review
- Systemic Autoinflammatory Diseases: A Growing Family of Disorders of Overlapping Immune Dysfunction.Rheumatic diseases clinics of North America · 2022Review
- A purine metabolic checkpoint that prevents autoimmunity and autoinflammation.Cell metabolism · 2022Article
- New or vanishing frontiers:International journal of pediatrics & adolescent medicine · 2021Article
- LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.The Journal of experimental medicine · 2021Article
- Review
- Implications of juvenile idiopathic arthritis genetic risk variants for disease pathogenesis and classification.Current opinion in rheumatology · 2019Review
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/FAMIN. We describe three affected siblings from a Moroccan consanguineous family with an early-onset chronic, symmetric and erosive arthritis previously diagnosed as rheumatoid factor (RF)-negative polyarticular JIA. Autozygosity mapping identified four homozygous regions shared by all patients, located in chromosomes 3, 6 (n:2) and 13, containing over 330 genes. Subsequent whole exome sequencing identified two potential candidate variants within these regions (in FARS2 and LACC1/FAMIN). Genotyping of a cohort of healthy Moroccan individuals (n: 352) and bioinformatics analyses finally supported the frameshift c.128_129delGT mutation in the LACC1/FAMIN gene, leading to a truncated protein (p.Cys43Tyrfs*6), as the most probable causative gene defect. Additional targeted sequencing studies performed in patients with systemic-onset JIA (n:23) and RF-negative polyarticular JIA (n: 44) revealed no pathogenic LACC1/FAMIN mutations. Our findings support the homozygous genotype in the LACC1/FAMIN gene as the defect underlying the family here described with a recessively inherited severe inflammatory joint disease. Our evidences provide further support to the involvement of LACC1/FAMIN deficiency in different types of JIA in addition to the initially described systemic-onset JIA.
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