@article {836821, title = {A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis.}, journal = {Ocul Immunol Inflamm}, year = {2016}, month = {2016 Jul 15}, pages = {1-8}, abstract = {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.}, issn = {1744-5078}, doi = {10.1080/09273948.2016.1185529}, author = {Ebrahimiadib, Nazanin and Abusamra, Khawla and Domina, Aaron M and Stiles, Ethan R and Ewer, Roger and Bocian, Charlie P and Foster, C Stephen} }