期刊
OCULAR IMMUNOLOGY AND INFLAMMATION
卷 26, 期 1, 页码 57-64出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/09273948.2016.1185529
关键词
Arthritis; Blau syndrome; dermatitis; early onset sarcoidosis; NOD2 associated auto-inflammatory disorder; NOD2/CARD15; uveitis
资金
- Husson University School of Pharmacy
- Husson University
Purpose: To describe the clinical and molecular implications of a novel mutation in the NOD2/CARD15 gene on a family and its seven affected members. Methods: We reviewed the clinical presentations of family members who came to our center for refractory uveitis. Genetic testing and molecular testing was performed. Results: All affected members had adult onset recurrent non-granulomatous panuveitis. The inheritance pattern suggested an autosomal dominant disease and genetic analysis identified a novel mutation in the NOD2 gene that converted amino acid 600 from glutamate to alanine (E600A). Transfection of the E600A NOD2 into human embryonic kidney-293 (HEK293) cells revealed constitutive activation and a reduced ability to respond to the NOD2 ligand, muramyl dipeptide (MDP) as compared with wild-type NOD2. Conclusions: The E600A mutation in the NOD2 gene may confer a higher penetrance of uveitis but a later onset of milder forms of non-ocular involvement.
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