Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features

J Allergy Clin Immunol. 2018 Mar;141(3):1135-1138. doi: 10.1016/j.jaci.2017.10.019. Epub 2017 Nov 11.

Authors

Yuji Sugawara¹, Kohsuke Imai², Ayako Kashimada², Kengo Moriyama², Shimpei Baba², Ryuta Nishikomori³, Mizuho Motegi⁴, Yasuo Takeuchi⁵, Tomohiro Morio²

Affiliations

¹ Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address: ysugped@tmd.ac.jp.
² Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.
³ Department of Pediatrics, Graduate School of Medicine, Kyoto, Japan.
⁴ Department of Pediatric Dentistry, Tokyo Medical and Dental University, Tokyo, Japan.
⁵ Department of Periodontology, Tokyo Medical and Dental University, Tokyo, Japan.

PMID: 29132962
DOI: 10.1016/j.jaci.2017.10.019

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Autoimmune Diseases of the Nervous System / genetics*
Autoimmune Diseases of the Nervous System / immunology*
Autoimmune Diseases of the Nervous System / pathology*
Female
Humans
Infant
Interferon-Induced Helicase, IFIH1 / genetics*
Interferon-Induced Helicase, IFIH1 / immunology*
Nervous System Malformations / genetics*
Nervous System Malformations / immunology*
Nervous System Malformations / pathology*
Up-Regulation / immunology*

Substances

IFIH1 protein, human
Interferon-Induced Helicase, IFIH1

Supplementary concepts

Aicardi-Goutieres syndrome