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Page 1
Type I interferonopathies in pediatric rheumatology.
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M. Volpi S, et al. Pediatr Rheumatol Online J. 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. Pediatr Rheumatol Online J. 2016. PMID: 27260006 Free PMC article. Review.
The genetics of type I interferon in systemic lupus erythematosus.
Bronson PG, Chaivorapol C, Ortmann W, Behrens TW, Graham RR. Bronson PG, et al. Curr Opin Immunol. 2012 Oct;24(5):530-7. doi: 10.1016/j.coi.2012.07.008. Epub 2012 Aug 10. Curr Opin Immunol. 2012. PMID: 22889593 Review.
The recent identification of single gene mutations for disorders that share features with SLE--Aicardi-Goutieres syndrome, chilblain lupus, and spondyloenchondrodysplasia--provide additional support for the hypothesis that type I IFNs are central drivers of SLE pathogenesi …
The recent identification of single gene mutations for disorders that share features with SLE--Aicardi-Goutieres syndrome, chilblain lupus, …
Type I interferonopathies: a novel set of inborn errors of immunity.
Crow YJ. Crow YJ. Ann N Y Acad Sci. 2011 Nov;1238:91-8. doi: 10.1111/j.1749-6632.2011.06220.x. Ann N Y Acad Sci. 2011. PMID: 22129056
Specifically, we discuss a group of conditions, including Aicardi-Goutieres syndrome, spondyloenchondrodysplasia, and cases of systemic lupus erythematosus with complement deficiency, in which an upregulation of type I interferons is apparently central to their pathogenesi …
Specifically, we discuss a group of conditions, including Aicardi-Goutieres syndrome, spondyloenchondrodysplasia, and cases of system …
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.
Coronary artery disease risk was also not associated with the full panel of 11 systemic lupus erythematosus single nucleotide polymorphisms or loci responsible for the monogenic type-I interferonopathies Aicardi-Goutieres syndrome and Spondyloenchondrodysplasia with immune …
Coronary artery disease risk was also not associated with the full panel of 11 systemic lupus erythematosus single nucleotide polymorphisms …
Spondyloenchondrodysplasia: a rare cause of short stature.
Yeşiltepe-Mutlu G, Ozsu E, Cizmecioğlu FM, Alanay Y, Hatun S. Yeşiltepe-Mutlu G, et al. Turk J Pediatr. 2011 Jul-Aug;53(4):464-6. Turk J Pediatr. 2011. PMID: 21980854
History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in the long bones and platyspondyly. …
History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigate …
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.
Munoz J, Rodière M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, Rozenberg F, Crow YJ, Bessis D. Munoz J, et al. JAMA Dermatol. 2015 Aug;151(8):872-7. doi: 10.1001/jamadermatol.2015.0251. JAMA Dermatol. 2015. PMID: 25992765
These monogenic phenotypes include classic Aicardi-Goutieres syndrome and syndromic forms of systemic lupus erythematosus, including familial chilblain lupus and spondyloenchondrodysplasia. Dermatologic features provide a major diagnostic clue to this disease grouping, as …
These monogenic phenotypes include classic Aicardi-Goutieres syndrome and syndromic forms of systemic lupus erythematosus, including familia …