التفاصيل البيبلوغرافية
| العنوان: |
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. |
| المؤلفون: |
Ebrahimiadib, Nazanin, Samra, Khawla Abu, Domina, Aaron M., Stiles, Ethan R., Ewer, Roger, Bocian, Charlie P., Foster, C. Stephen |
| المصدر: |
Ocular Immunology & Inflammation; 2018, Vol. 26 Issue 1, p57-64, 8p |
| مصطلحات موضوعية: |
GENETIC mutation, GENETIC testing, SARCOIDOSIS, OLIGOMERIZATION, INTERLEUKIN-1, BLAU syndrome, SKIN inflammation |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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