基因名：
NOD2
产品别名：
ACUG； BLAU； BLAUS； CARD15； CD； CLR16.3； IBD1； NLRC2； NOD2B； PSORAS1； YAOS； NOD2； nucleotide binding oligomerization domain containing 2； nucleotide binding oligomerization domain containing 2； nucleotide-binding oligomerization domain-containing protein 2； NLR family, CARD domain containing 2； NOD-like receptor C2； caspase recruitment domain family, member 15； caspase recruitment domain protein 15； caspase recruitment domain-containing protein 15； inflammatory bowel disease protein 1； nucleotide-binding oligomerization domain 2； nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2； 凋亡加强结构域蛋白15；
背景信息：
Defects in NOD2 are the cause of sarcoidosis early-onset (EOS) . EOS is a form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement.
