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Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.
Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H. Li W, et al. Front Immunol. 2022 Mar 28;13:825367. doi: 10.3389/fimmu.2022.825367. eCollection 2022. Front Immunol. 2022. PMID: 35418997 Free PMC article.
OBJECTIVE: This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in the treatment of type I interferonopathies patients including STING-associated vasculopathy with onset in infancy (SAVI), Aicardi-Goutieres s …
OBJECTIVE: This study aimed to assess the efficacy and safety of 2 Janus kinase (JAK) inhibitors (jakinibs) tofacitinib and ruxolitinib in t …
Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O. Kara B, et al. Rheumatol Int. 2020 Nov;40(11):1903-1910. doi: 10.1007/s00296-020-04653-x. Epub 2020 Jul 20. Rheumatol Int. 2020. PMID: 32691099 Free PMC article. Review.
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. ...The age at diagnosis of SLE was 4 years for girl, and 19 years for boy. Th …
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long …
Successful treatment of spondyloenchondrodysplasia with baricitinib.
Shimizu M, Inoue N, Mizuta M, Irabu H, Okajima M, Honda Y, Nihira H, Izawa K, Yachie A, Wada T. Shimizu M, et al. Rheumatology (Oxford). 2021 Feb 1;60(2):e44-e46. doi: 10.1093/rheumatology/keaa356. Rheumatology (Oxford). 2021. PMID: 32856090 No abstract available.
Toward a better understanding of type I interferonopathies: a brief summary, update and beyond.
Yu ZX, Song HM. Yu ZX, et al. World J Pediatr. 2020 Feb;16(1):44-51. doi: 10.1007/s12519-019-00273-z. Epub 2019 Aug 3. World J Pediatr. 2020. PMID: 31377974 Review.
BACKGROUNDS: Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling. The mechanisms are complex, and the clinical phenotypes are diverse. This review briefly summarized the recent progresses of type I …
BACKGROUNDS: Type I interferonopathy is a group of autoinflammatory disorders associated with prominent enhanced type I interferon signaling …
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study.
Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S. Kaya Akca U, et al. Eur J Med Genet. 2021 Apr;64(4):104185. doi: 10.1016/j.ejmg.2021.104185. Epub 2021 Mar 2. Eur J Med Genet. 2021. PMID: 33662637 Clinical Trial.
The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalangeal syndrome (n: 1); progressive pseudorheumatoid dysplasia (n: 2); LIG4 syndrome (n: 1); H syndrome (n: 1); spondyloenchondrodysplasia …
The diagnoses of patients were as follows: camptodactyly, arthropathy, coxa vara, and pericarditis (CACP) syndrome (n: 3); trichorhinophalan …
Genetic analysis of leukocyte type-I interferon production and risk of coronary artery disease.
Nelson CP, Schunkert H, Samani NJ, Erridge C. Nelson CP, et al. Arterioscler Thromb Vasc Biol. 2015 Jun;35(6):1456-62. doi: 10.1161/ATVBAHA.114.304925. Epub 2015 Apr 16. Arterioscler Thromb Vasc Biol. 2015. PMID: 25882064 Free article.
These single nucleotide polymorphisms explained 27.8% of variation in the CpG-oligonucleotide-induced IFN-alpha response and were also associated with Toll-like receptor-7/8- and Toll-like receptor-9-dependent IFN-alpha and IFN-beta responses, but were not associated with inflamm …
These single nucleotide polymorphisms explained 27.8% of variation in the CpG-oligonucleotide-induced IFN-alpha response and were also assoc …