Corneal Ulcers with NOD2 Mutations Presenting with Mixed Syndromic Phenotype.
Sign Up to like & getrecommendations! Published in 2021 at "Ocular immunology and inflammation"
DOI: 10.1080/09273948.2021.1993268
Abstract: PURPOSE To report a case of corneal ulcers in a patient with NOD2 mutations unique to but phenotypically resembling well-characterized syndromic phenotypes like Blau syndrome. OBSERVATION A 25-year-old female with a medical history of type… read more here.
Keywords: corneal ulcers; mutations presenting; ulcers nod2; presenting mixed ... See more keywords
Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.988862
Abstract: The studies described here provide an analysis of the pathogenesis of Blau syndrome and thereby the function of NOD2 as seen through the lens of its dysfunction resulting from Blau-associated NOD2 mutations in its nucleotide-binding… read more here.
Keywords: cross regulation; nod2 mutations; nod2; cross ... See more keywords