RT Journal Article
T1 Efficacy and Safety of Janus Kinase Inhibitors in Type I Interferon-Mediated Monogenic Autoinflammatory Disorders: A Scoping Review.
A1 Gómez-Arias, Pedro Jesús
A1 Gómez-García, Francisco
A1 Hernández-Parada, Jorge
A1 Montilla-López, Ana María
A1 Ruano, Juan
A1 Parra-Peralbo, Esmeralda
K1 Autoinflammatory diseases
K1 Baricitinib
K1 CANDLE
K1 Familial chilblain lupus
K1 Interferon pathway
K1 JAK inhibitors
K1 Ruxolitinib
K1 SAVI
K1 Tofacitinib
AB 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. To review the use of JAK inhibitors to improve decision-making when treating interferonopathies with cutaneous manifestations. 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. 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. 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.
SN 2193-8210
YR 2021
FD 2021-04-15
LK https://hdl.handle.net/10668/28261
UL https://hdl.handle.net/10668/28261
LA en
DS RISalud
RD Apr 9, 2025