Familial Blau syndrome:First molecularly confirmed report from India
Mahesh Janarthanan1, Chanchal Poddar2, S Sudharshan2
1Division of Pediatric Rheumatology, Department of Pediatrics, Sri Ramachandra University, Chennai, Tamil Nadu, India.
Abstract:
Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients - the first such molecularly proven case report of familial BS from India.
More Related Videos
03:45Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
11:04Author Spotlight: Methods for Electroporation and Transformation Confirmation in Limosilactobacillus reuteri DSM20016
Published on: June 23, 2023
Related Concept Videos
Protein Families
Protein Families
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Gene Families
Confirmation Biases
Family Therapy
Strategic Family Therapy
Strategic family therapy emphasizes resolving communication barriers and improving problem-solving abilities...
