CARD15 gene ( CAspase Recruitment Domain-containing protein 15 gene )
● Also known as:
A) “Nucleotide-binding oligomerization domain-containing protein 2 (NOD2)”
B ) Inflammatory bowel disease protein 1 (IBD1).
■ It is a protein that in humans is encoded by the NOD2 gene located on chromosome 16q.
● It plays an important role in the immune system. It recognizes bacterial molecules (peptidoglycans) and stimulates an immune reaction.
● It is associated with :
A) Inflammatory Bowel disease.
Blau syndrome.
( ¤ It is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints.
¤ Symptoms usually begin before the age of 4.
¤ Disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis.)
C) Pulmonary sarcoidosis.
D) Graft versus Host Disease (GVHD)