Gómez-Arias, Pedro JesúsGómez-García, FranciscoHernández-Parada, JorgeMontilla-López, Ana MaríaRuano, JuanParra-Peralbo, Esmeralda2022-11-302022-11-302021-04-15Gómez-Arias PJ, Gómez-García F, Hernández-Parada J, Montilla-López AM, Ruano J, Parra-Peralbo E. Efficacy and Safety of Janus Kinase Inhibitors in Type I Interferon-Mediated Monogenic Autoinflammatory Disorders: A Scoping Review. Dermatol Ther. 2021 Jun;11(3):733-7502193-8210http://hdl.handle.net/10668/4440Importance Type I interferon (IFN)-mediated monogenic autoinflammatory disorders (interferonopathies) are childhood-onset rare multisystemic diseases with limited treatment options. The Janus kinase (JAK) inhibitors are promising potential therapeutic candidates for immune-mediated chronic inflammatory skin diseases. Objective To review the use of JAK inhibitors to improve decision-making when treating interferonopathies with cutaneous manifestations. Evidence Review The MEDLINE, EMBASE, CINAHL, Scopus, and Web of Science databases were searched for studies that used JAK protein inhibitors to treat IFN-related monogenic diseases with cutaneous manifestations in humans. The search results are reported using the scoping review approach. Findings Seventeen open-label studies assessing the efficacy of ruxolitinib, baricitinib, or tofacitinib reported variable responses in patients with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and related syndromes, stimulator of IFN genes [STING]-associated vasculopathy with onset in infancy (SAVI), familial chilblain lupus (FCh-L), gain-of-function mutations of STAT1 (GOF-STAT1), or Aicardi-Goutiéres syndrome. JAK inhibitors improved clinical and analytical parameters and decreased flare numbers, plasma inflammatory markers, and expression of IFN-stimulated genes. BK viremia and upper respiratory infections were the most frequent and severe adverse events. Significant heterogeneity in efficacy assessment methods and poor reporting of safety events were detected. Conclusions and Relevance Evidence of the use of JAK inhibitors in patients with interpheronopathies is scarce and of low methodological quality. Future clinical trials should use validated scales and report drug safety in a more accurate way.enAtribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/CANDLESAVIFamilial chilblain lupusJAK inhibitorsAutoinflammatory diseasesInterferon pathwayRuxolitinibTofacitinibBaricitinibViremiaType I interferonInterferonopathiesInhibidores de las cinasas JanusEnfermedades autoinflamatorias hereditariasInterferón de tipo IBases de datos bibliográficasMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Persons::Persons::Age Groups::ChildMedical Subject Headings::Information Science::Information Science::Information Storage and Retrieval::Databases as Topic::Databases, Bibliographic::PubMed::MEDLINEMedical Subject Headings::Diseases::Virus Diseases::ViremiaMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Interferons::Interferon Type IMedical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::Janus KinasesMedical Subject Headings::Diseases::Respiratory Tract Diseases::Respiratory Tract InfectionsMedical Subject Headings::Information Science::Information Science::Communications Media::Publications::Bibliography as Topic::Bibliometricsreview article33856640open access10.1007/s13555-021-00517-92190-9172PMC8163936