title: [Familial chilblain lupus : Type 1 interferonopathy with model character].
abstract: Familial chilblain lupus belongs to the group of type 1 interferonopathies and is particularly characterized by typical skin manifestations and ischemia of the acra. There are various mutations that can lead to this autosomal dominant disease. A mutation in the TREX-1 gene has been most frequently found; however, families with mutations in the SAMHD1 gene and recently in the gene which codes for the stimulator of interferon genes (STING) protein were also described. A common feature of these genetic defects is that they are all involved in the process of detection of intracellular free DNA, which as a result leads to increased production of type 1 interferons and the induced gene products. This then leads to autoinflammation and autoimmunity, which is characteristic for the disease. The activation of interferon-induced genes is controlled by the JAK-STAT system; therefore, JAK inhibitors were successfully used in several cases to treat type 1 interferonopathies. Experience with this treatment modality is continuously growing.
authors.affiliation: ACURA-Rheumazentrum Baden-Baden, Rotenbachtalstr. 5, 76530, Baden-Baden, Deutschland. c.fiehn@acura-kliniken.com.
authors.forename: C
authors.initials: C
authors.lastname: Fiehn
mesh_terms: D002647:Chilblains; D016207:Cytokines / Q000235:genetics; D019317:Evidence-Based Medicine; D005090:Exodeoxyribonucleases / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D058847:Inflammasomes / Q000235:genetics; D008178:Lupus Erythematosus, Cutaneous; D009154:Mutation / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics*; D000076106:SAM Domain and HD Domain-Containing Protein 1 / Q000235:genetics*
chemical_list: D016207:Cytokines; D058847:Inflammasomes; D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1; D000076106:SAM Domain and HD Domain-Containing Protein 1; C484280:SAMHD1 protein, human
keywords: Autoimmunity; Autoinflammation; Autosomal dominant; JAK inhibitors; Mutation