A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function:

Innate Immunity

Lawrence TCOng¹ 

关键词: Autoinflammation;    Blau syndrome;    early onset sarcoidosis;    inflammasome;    NOD2;   

DOI  :  10.1177/1753425917727063

学科分类：生物科学（综合）

来源: Sage Journals

【 摘 要 】

Mutations in the nucleotide binding domain of the PRR, NOD2, are associated with the autoinflammatory diseases Blau syndrome and early-onset sarcoidosis. Current theories suggest that constitutive activation of the NOD2 pathway may be responsible for pathogenesis of these diseases. Here, we report the phenotype of a kindred with Blau syndrome caused by a novel NOD2 mutation (p.E383D). Signaling protein and cytokine expression were examined, and the results of these experiments challenge current theories of constitutive NOD2 activation in the pathophysiology of Blau syndrome.

【 授权许可】

CC BY