Concepedia

Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor

Shinsuke Kataoka, Nozomu Kawashima, Yusuke Okuno, Hideki Muramatsu, Shunsuke Miwata, Kotaro Narita, Motoharu Hamada, Norihiro Murakami, Rieko Taniguchi, Daisuke Ichikawa,

Journal of Allergy and Clinical Immunology · 2021 · 41 citations · 4 references

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4

Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Michael McDermott, Ivona Aksentijevich, Jérôme Galon et al. · Cell · 1999 · 1.4K citations · Full text

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Activated STING in a Vascular and Pulmonary Syndrome

Adriana A. de Jesus, Bernadette Marrero, Dan Yang et al. · New England Journal of Medicine · 2014 · 1.4K citations · Full text

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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 450 citations · Full text

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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

Yin Liu, Yuval Ramot, Antonio Torrelo et al. · Arthritis & Rheumatism · 2011 · 401 citations

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