# Canakinumab in Yao Syndrome: Insights From a Comprehensive Case Report and Literature Review 

## TL;DR

A teenager with Yao syndrome showed significant improvement using canakinumab, a treatment that could expand options for this rare inflammatory disorder.

## Contribution

This case report highlights canakinumab as a potential therapeutic option for managing Yao syndrome.

## Key findings

- A teenager with Yao syndrome showed significant improvement after canakinumab therapy.
- The case features NOD2 gene mutations R702W and IVS8+158C, typical of Yao syndrome.
- Canakinumab may offer an effective treatment for managing symptoms of Yao syndrome.

## Abstract

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.