Table 1 Characteristics of Blau syndrome and NAID
CHARACTERISTICS | Blau Syndrome | NAID | Patient | ||
|---|---|---|---|---|---|
Gender | Female > Male | + | + | √ | |
Ethnicity | Caucasian | + | + | √ | |
Age at onset | > 40 years | – | + | – | |
< 5 years | + | – | √ | ||
Clinical features | Frequent | Uveitis | +++ | – | √ |
Arthritis / arthralgia | +++ | ++ | √ | ||
Skin rash / dermatitis | +++ | +++ | √ | ||
Recurrent fever | ++ | +++ | √ | ||
Periodic occurrence | ++ | +++ | √ | ||
Infrequent | Gastrointestinal involvement | – | ++ | √ | |
Serositis | – | ++ | – | ||
Sicca-like symptoms | – | ++ | – | ||
Adenopathy | ++ | – | √ | ||
Camptodactyly | ++ | – | – | ||
Malignant hypertension | ++ | – | – | ||
Lung involvement | ++ | – | – | ||
Kidney involvement | ++ | – | – | ||
Hepatosplenomegaly | ++ | – | √ | ||
Neurological symptoms | ++ | – | √ | ||
Vasculitis | ++ | – | – | ||
Gene mutations | NOD2: R334W | +++ | – | – | |
NOD2: R334Q | +++ | – | – | ||
NOD2: P268S | + | – | √ | ||
NOD2: IVS8+158 | – | +++ | √ | ||
NOD2: R702W | – | ++ | – | ||
NOD2: G908R | – | ++ | – | ||
NOD2: 1007 fs | – | ++ | √ | ||
Laboratory data | Leukocytosis | ++ | ++ | – | |
Anemia | ++ | ++ | √ | ||
Elevated acute phase reactants | ++ | ++ | √ | ||
Presence of antinuclear antibodies | ++ | + | – | ||
Elevated Il-1β, Il-6, TNF | ++ | ++ | – | ||
Low total IgG or/and IgM/IgA levels | + | ++ | √ | ||
Other tests | Skin biopsy | Granulomatous dermatitis | + | – | √ |
Spongiotic dermatitis | – | + | – | ||
Endoscopy | Inflammatory bowel disease | – | – | – | |