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                             دومین ويژه نامه همايش بهاره چشم پزشكي منتشر شد        شب بهاری چشم پزشکی با رحیم شهریاری       دومین همایش بهاره چشم پزشکی
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مقاله Abstract

Title: A novel NOD2-associated mutation and variant Blau syndrome: phenotype and molecular analysis
Author(s): Nazanin Ebrahimiadib, Khawla Abu Samra, Aaron M. Domina Ph.D., Ethan R. Stiles, Roger Ewer, Charlie P. Bocian, C. Stephen Foster MD, FACS, FACR
Presentation Type: Oral
Subject: Immunology/Microbiology
Presenting Author:
Name: Nazanin Ebrahimi adib
Affiliation :(optional) Tehran University of Medical Sciences
E mail:
Phone: 021-22594802
Mobile: 09032694051

To describe the clinical and molecular implications of a novel mutation in the NOD2/ CARD15 gene on a family and its seven affected members.


We reviewed the clinical presentations of family members who came to our center for refractory uveitis. Genetic testing and molecular testing was performed.


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.


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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  - دومین ويژه نامه همايش بهاره چشم پزشكي منتشر شد
  -  شب بهاری چشم پزشکی با رحیم شهریاری
  - دومین همایش بهاره چشم پزشکی