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Article

Blau syndrome with NOD2 mutation in a 54-year-old man: A case report.

International journal of rheumatic diseases - 1 Oct 2023

Wang Zhiyan, Yang Mingdong, Zhang Qunqun, Zhang Suhua, Sui Haifang, Liu Jiane, Yang Qingrui

Abstract excerpt

Blau syndrome (BS) is a rare genetic immune disease which commonly presents in childhood. Currently, the miss-rate of BS diagnosis is very high, and an effective clinical management of BS has not been well established. This case report depicts a 54-year-old male Chinese patient presenting with hand malformation, fever, skin rash and joint pain. His diagnosis was ultimately confirmed according to typical medical...

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Identifiers

PMID: 37246600
DOI: 10.1111/1756-185X.14716

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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