Article
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Rheumatology (Oxford, England) - 1 Mar 2014
Abe Junya, Nakamura Kazuyuki, Nishikomori Ryuta, Kato Mitsuhiro, Mitsuiki Noriko, Izawa Kazushi, Awaya Tomonari, Kawai Tomoki, Yasumi Takahiro, Toyoshima Itaru, Hasegawa Kazuko, Ohshima Yusei, Hiragi Toru, Sasahara Yoji, Suzuki Yasuhiro, Kikuchi Masahiro, Osaka Hitoshi, Ohya Takashi, Ninomiya Shinya, Fujikawa Satoshi, Akasaka Manami, Iwata Naomi, Kawakita Akiko, Funatsuka Makoto, Shintaku Haruo, Ohara Osamu, Ichinose Hiroshi, Heike Toshio
Abstract excerpt
OBJECTIVES: Aicardi-Goutières syndrome (AGS) is a rare, genetically determined, early onset progressive encephalopathy associated with autoimmune manifestations. AGS is usually inherited in an autosomal recessive manner. The disease is rare, therefore the clinical manifestations and genotype-phenotype correlations, particularly with regard to autoimmune diseases, are still unclear. Here we performed a nationwide...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.