Abstract
Preliminary response to Janus kinase inhibition with baricitinib in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) G Montealegre, A Reinhardt, P Brogan, Y Berkun, A Zlotogorski, D Brown, P Chira, L Gao, J Dare, S Schalm, R Merino, D Chapelle, H Kim, S Judd, M O’Brien, A Almeida De Jesus, Y Kim, B Kost, Y Huang, S Paul, A Brofferio, C-C Lee, C Hadigan, T Heller, C Minniti, K Rother, R Goldbach-Mansky
Highlights
CANDLE is a novel autoinflammatory syndrome presenting early in infancy with attacks of fever, panniculitis, arthritis, myositis, lipodystrophy, cytopenias, dyslipidemia and growth retardation
CANDLE is caused by mutations in a number of proteasome-associated genes including PSMA3, PSMB4, PSMB8 and PSMB9
Elevated serum IP-10 (CXCL10) levels and gene expression studies show a prominent “interferon (IFN) signature”. These findings and the successful in vitro blocking studies with Janus kinases (JAKs) inhibitors, raised the question whether IFN could be a therapeutic target in CANDLE
Summary
CANDLE is a novel autoinflammatory syndrome presenting early in infancy with attacks of fever, panniculitis, arthritis, myositis, lipodystrophy, cytopenias, dyslipidemia and growth retardation. CANDLE is caused by mutations in a number of proteasome-associated genes including PSMA3, PSMB4, PSMB8 and PSMB9. Elevated serum IP-10 (CXCL10) levels and gene expression studies show a prominent “interferon (IFN) signature”. These findings and the successful in vitro blocking studies with Janus kinases (JAKs) inhibitors, raised the question whether IFN could be a therapeutic target in CANDLE
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