A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient-Reference-Cited by-同舟云学术

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient

Published:2017-12-22 Issue:2 Volume:178 Page:e111-e113
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Takeichi T.¹^ORCID,Katayama C.²,Tanaka T.³,Okuno Y.⁴⁵,Murakami N.⁵,Kono M.¹^ORCID,Sugiura K.⁶,Aoyama Y.²,Akiyama M.¹

Affiliation:

1. Departments of Dermatology; Nagoya University Graduate School of Medicine; 65 Tsurumai-cho, Showa-ku Nagoya 466-8550 Japan

2. Departments of Dermatology; Kawasaki General Hospital; Kawasaki Medical School; Okayama Japan

3. Pediatrics; Kawasaki General Hospital, Kawasaki Medical School; Okayama Japan

4. Center for Advanced Medicine and Clinical Research; Nagoya University Hospital; Nagoya Japan

5. Pediatrics; Nagoya University Graduate School of Medicine; 65 Tsurumai-cho, Showa-ku Nagoya 466-8550 Japan

6. Department of Dermatology; Fujita Health University School of Medicine; Toyoake Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15869/fullpdf

Reference8 articles.

1. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling;Rice;Nat Genet,2014

2. Aicardi-Goutieres syndrome is caused by IFIH1 mutations;Oda;Am J Hum Genet,2014

3. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome;Rutsch;Am J Hum Genet,2015

4. Brief report: IFIH1 mutation causes systemic lupus erythematosus with selective IgA deficiency;Eyck;Arthritis Rheumatol,2015

5. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: Overlap between Aicardi-Goutières and Singleton-Merten syndromes;Bursztejn;Br J Dermatol,2015

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