Monogenic Autoinflammatory Disease Due to Blau Syndrome with Nucleotide Oligomerization Domain 2 Gene Mutation in an Indian Family

• Príomhchruthaitheoirí: Suvarna Magar (Údar), Naziya Perveen (Údar), Anjali Kale (Údar), Srishti Agrawal (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: Wolters Kluwer Medknow Publications, 2024-05-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Background: Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by a triad of dermatitis, arthritis, and uveitis. We report Blau syndrome in a child who had been symptomatic for years, without the typical cli...