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Article

Two Chinese pedigrees of Blau syndrome with thirteen affected members.

Clinical rheumatology - 1 Jan 2018

Wu Di, Shen Min

Abstract excerpt

Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disease characterized by the clinical triad of dermatitis, arthritis, and uveitis. It is caused by mutations in nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene. BS has been widely reported in Caucasians but cases documented in China are scarce. We reported two Chinese families with BS, which were by far the two largest...

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Identifiers

PMID: 28721627
DOI: 10.1007/s10067-017-3758-7

Genes

NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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