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Article

[Mutations of NOD2 gene and clinical features in Chinese Blau syndrome patients].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2014

Wang Wei, Wei Min, Song Hongmei, Qiu Zhengqing

Abstract excerpt

OBJECTIVE: Blau syndrome (BS), an autosomal dominant inherited autoinflammatory disease, is caused by NOD2 mutations. This study aimed to analyze NOD2 gene of suspected BS patients to make definite diagnosis, find NOD2 mutation types and clinical features of Chinese BS cases, and find some clinical indications to identify BS by comparing BS and non-BS cases. METHOD: Eighteen suspected BS children (7 boys and 11...

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Source

Identifiers

PMID: 25619344

Genes

NOD2
CRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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