Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome

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

Source: Pediatric Rheumatology - October 3, 2022 Category: Rheumatology Authors: Shao-Yu Chang, Naotomo Kambe, Wen-Lang Fan, Jing-Long Huang, Wen-I Lee and Chao-Yi Wu Tags: Case Report Source Type: research