Expanding clinical characteristics and genotypic profiling of Yao syndrome in Chinese patients.

Abstract excerpt

Objectives: Yao syndrome (YAOS, OMIM# 617321) is a kind of systemic autoinflammatory diseases (SAIDs) linked to the nucleotide-binding oligomerization domain containing 2 (NOD2). Clinical reports of YAOS in China are sparse. Herein, we reported the largest YAOS cohort of Chinese patients to expand the understanding of its phenotype, genotype, and therapeutic responses. Methods: This study enrolled 15 adult...

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• Antibodies, Monoclonal, Humanized
• Arthritis
• Dermatitis
• East Asian People
• Exome Sequencing