NOD2 Versus MEFV: Differential Diagnosis of Yao Syndrome and Familial Mediterranean Fever.

ABSTRACT:

Objectives

Yao syndrome (YAOS, OMIM 617321) was formerly designated as nucleotide-binding oligomerization domain-containing protein-2 (NOD2)-associated autoinflammatory disease (NAID). This disorder shares similar clinical phenotypes with hereditary periodic fever syndromes (HPFS). This study aimed to compare YAOS with familial Mediterranean fever (FMF).

Methods

In this retrospective study, electronic medical records of a case series of YAOS were reviewed and data were analyzed. All patients underwent genetic testing for periodic fever syndrome 6-gene panel.

Results

A total of 6 cases were presented. These patients were initially thought to have MEditerranean FeVer (MEFV)-negative FMF and received treatment with colchicine. They were eventually diagnosed with YAOS. Th

SUBMITTER: Yao Q 

PROVIDER: S-EPMC9524798 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature