%0 Case Reports
%T Canakinumab in Yao Syndrome: Insights From a Comprehensive Case Report and Literature Review .
%A Ahmad A
%A Kilian A
%J Cureus
%V 16
%N 6
%D 2024 Jun
%M 39006711
暂无%R 10.7759/cureus.62245
%X Yao syndrome, a rare autoinflammatory disorder linked to mutations in the nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene, manifests through periodic fever, polyarthritis, dermatitis, gastrointestinal disturbances, and sicca-like symptoms. The therapeutic landscape is limited, primarily encompassing glucocorticoids, interleukin-1 (IL-1), and IL-6 inhibitors. This report details the case of a teenager with periodic fevers, arthritis, livedo reticularis, and NOD2 gene mutations R702W and IVS8+158C consistent with Yao syndrome. The individual demonstrated significant improvement with canakinumab therapy. This case report aims to enhance recognition and understanding of Yao syndrome's clinical spectrum and management options.