Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia

• Main Authors: Kin Fon Leong (Author), Reiko Sato (Author), Glenda Guek Khim Oh (Author), Uttam Surana (Author), Zacharias Aloysius Dwi Pramono (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Blau syndrome (BS) is a very rare autosomal dominant juvenile inflammatory disorder caused by mutation in nucleotide-binding oligomerization domain containing 2 (NOD2). Usually, dermatitis is the first symptom that appears in the 1styear of life. About 220 BS cases with confirmed NOD2 mutation have...