Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome

Shao Yu Chang, Naotomo Kambe, Wen Lang Fan, Jing Long Huang, Wen I. Lee, Chao Yi Wu*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

1 Scopus citations


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 intracellular staining of phosphorylated-NFκB in patient’s CD11b+ cells were consistent with BS. Conclusions: We reported a novel C483W NOD2 mutation underlining BS with incomplete penetrance. Moreover, a phosphorylated-NFκB intracellular staining assay of CD11b+ was proposed to assist functional evaluation of NFκB autoactivation in patient with BS.

Original languageEnglish
Article number86
JournalPediatric Rheumatology
Issue number1
StatePublished - 12 2022

Bibliographical note

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  • Blau syndrome
  • Incomplete penetrance
  • NFκB
  • NOD2


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