ArticleAmerican journal of human genetics2006
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 141 citations in OpenAlex.
- Iterative genetic testing identifiesJournal of human immunity · 2026Article
- Chilblain lupus: A rare form of cutaneous lupus erythematosus - A case report.SAGE open medical case reports · 2026Article
- Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.Pediatric rheumatology online journal · 2025Article
- 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.Neurobiology of disease · 2025Review
- The intersection of TREX1, cGAS, STING and the DNA damage theory of aging.Frontiers in aging · 2025Review
- Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants.Nature reviews. Nephrology · 2023Review
- Significance of the cGAS-STING Pathway in Health and Disease.International journal of molecular sciences · 2023Review
- The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus.Current issues in molecular biology · 2023Review
- Type I Interferonopathies in Childhood.Balkan medical journal · 2023Article
- Immunogenetics of Lupus Erythematosus.Advances in experimental medicine and biology · 2022Article
- Cutaneous Manifestations of Autoinflammatory Diseases.Rheumatology and immunology research · 2021Review
- Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.International journal of molecular sciences · 2021Review
- Type I Interferonopathies in Children: An Overview.Frontiers in pediatrics · 2021Review
- Type I Interferon Induction in Cutaneous DNA Damage Syndromes.Frontiers in immunology · 2021Review
- Lung involvement in monogenic interferonopathies.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- The Role of Cutaneous Type I IFNs in Autoimmune and Autoinflammatory Diseases.Journal of immunology (Baltimore, Md. : 1950) · 2020Review
- The influence of interferon on healthy and diseased skin.Cytokine · 2020Review
- Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi-Goutie'res syndrome.Pediatric rheumatology online journal · 2020Article
- Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation.JAMA dermatology · 2019Article
- Nucleic Acid Immunity in the Pathogenesis of Cutaneous Lupus Erythematosus.Frontiers in immunology · 2019Review
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslike disease may occur in association with other autoimmune diseases or high susceptibility to bacterial infections, its etiology is multifactorial in nature. Cutaneous findings are a hallmark of the disease and manifest either alone or in association with internal-organ disease. We describe a novel genodermatosis characterized by painful bluish-red inflammatory papular or nodular lesions in acral locations such as fingers, toes, nose, cheeks, and ears. The lesions sometimes appear plaquelike and tend to ulcerate. Manifestation usually begins in early childhood and is precipitated by cold and wet exposure. Apart from arthralgias, there is no evidence for internal-organ disease or an increased susceptibility to infection. Histological findings include a deep inflammatory infiltrate with perivascular distribution and granular deposits of immunoglobulins and complement along the basement membrane. Some affected individuals show antinuclear antibodies or immune complex formation, whereas cryoglobulins or cold agglutinins are absent. Thus, the findings are consistent with chilblain lupus, a rare form of cutaneous lupus erythematosus. Investigation of a large German kindred with 18 affected members suggests a highly penetrant trait with autosomal dominant inheritance. By single-nucleotide-polymorphism-based genomewide linkage analysis, the locus was mapped to chromosome 3p. Haplotype analysis defined the locus to a 13.8-cM interval with a LOD score of 5.04. This is the first description of a monogenic form of cutaneous lupus erythematosus. Identification of the gene responsible for familial chilblain lupus may shed light on the pathogenesis of common forms of connective-tissue disease such as systemic lupus erythematosus.
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