Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
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T. Taketani | I. Nishino | Y. Okuno | S. Kojima | H. Ohnishi | Kyogo Suzuki | H. Muramatsu | Yoshiyuki Takahashi | J. Natsume | A. Narita | Shunsuke Miwata | K. Narita | D. Ichikawa | M. Hamada | E. Nishikawa | N. Kawashima | N. Nishio | N. Murakami | Taichi Kato | Hidenori Yamamoto | Yoshie Fukasawa | S. Kataoka | R. Taniguchi | Hironobu Kitazawa | H. Yamamoto | Norihiro Murakami | Daisuke Ichikawa | Rieko Taniguchi | Eri Nishikawa
[1] Dong Hun Lee,et al. Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. , 2017, The Journal of allergy and clinical immunology.
[2] F. Rieux-Laucat,et al. Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children. , 2016, The Journal of allergy and clinical immunology.
[3] R. Goldbach-Mansky,et al. Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus , 2016, Journal of Molecular Medicine.
[4] Ha Won Kim,et al. Activated STING in a vascular and pulmonary syndrome. , 2014, The New England journal of medicine.
[5] A. Paller,et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. , 2012, Arthritis and rheumatism.
[6] A. Green,et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. , 2007, American journal of human genetics.
[7] Ian Todd,et al. Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes , 1999, Cell.