Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome

Table 1 Demographic and clinical manifestations of patients with YAOS

Characteristics	Patient 1	Patient 2	Patient 3
Gender	Female	Female	Male
Age at diagnosis (years old)	49	37	48
Age at onset (years old)	39	20	45
Ethnicity	Han	Han	Han
Family history	No	No	No
Clinical features
Fever	Yes	Yes	Yes
Arthritis/arthralgia	Yes	Yes	No
Gastrointestinal symptoms	Yes	Yes	Yes
Distal lower extremity swelling	Yes	Yes	Yes
Skin rash	No	Yes	Yes
Sicca-like symptoms	No	No	No
Serositis	Yes	No	No
Leukocytosis	Yes	No	No
Elevated ESR/CRP	Yes	Yes	Yes
NOD2 variants
Nucleotide exchanges	c.2704C > A	c.2704C > A c.1411C > T	c.2704C > A
Amino acid exchanges	p.Q902K	p.Q902K p.R471C	p.Q902K

NOD2 Nucleotide-binding oligomerization domain containing 2, ESR Erythrocyte sedimentation rate, CRP C-reactive protein

ISSN: 1478-6362