Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.

ABSTRACT:

Background

Blau syndrome (BS) is a rare autoinflammatory disorder with NOD2 gain-of-function mutation and characterized by autoactivation of the NFκB pathway. Classically considered a disease of high penetrance, reports on NOD2 mutations underlining BS with incomplete penetrance is limited.

Case presentation

The proband is a 9-year-old girl presented with brownish annular infiltrative plaques and symmetric boggy polyarthritis over bilateral wrists and ankles. Her skin biopsy revealed noncaseating granulomas inflammation with multinucleated giant cells. A novel C483W NOD2 mutation was identify in the proband and her asymptomatic father. Functional examinations including autoactivation of the NFκB pathway demonstrated by in vitro HEK293T NOD2 overexpression test as well as int

SUBMITTER: Chang SY 

PROVIDER: S-EPMC9531522 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature