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مقاله
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Abstract
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Title:
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A novel NOD2-associated mutation and variant Blau syndrome: phenotype and molecular analysis
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Author(s):
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Nazanin Ebrahimiadib, Khawla Abu Samra, Aaron M. Domina Ph.D., Ethan R. Stiles, Roger Ewer, Charlie P. Bocian, C. Stephen Foster MD, FACS, FACR
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Presentation Type:
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Oral
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Subject:
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Immunology/Microbiology
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Others:
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Presenting Author:
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Name:
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Nazanin Ebrahimi adib
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Affiliation :(optional)
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Tehran University of Medical Sciences
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E mail:
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nazanin.ebrahimiadib@gmail.com
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Phone:
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021-22594802
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Mobile:
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09032694051
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Purpose:
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To describe the clinical and molecular implications of a novel mutation in the NOD2/ CARD15 gene on a family and its seven affected members.
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Methods:
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We reviewed the clinical presentations of family members who came to our center for refractory uveitis. Genetic testing and molecular testing was performed.
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Results:
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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 to wild type NOD2.
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Conclusion:
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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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Attachment:
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