Table 2.
Characteristics of the patients.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| DEMOGRAPHIC CHARACTERISTICS | |||||||||||
| Nationality | Han | Han | Han | Han | Han | Han | Han | Han | Han | Han | Han |
| Sex | M | M | M | F | F | F | M | F | M | M | M |
| Age at onset | 12 y 3 m | 3 y 10 m | 5 y 11 m | 6 y 9 m | 9 y 10 m | 7 y 1 m | 8 y 5 m | 5 y 9 m | 8 y | 5 y 7 m | 8 y 5 m |
| Age at diagnosis | 12 y 9 m | 13 y 5 m | 6 y 7 m | 9 y 3 m | 10 y 11 m | 12 y 2 m | 15 y 1 m | 6 y 8 m | 11 y 3 m | 7 y 8 m | 9 y 2 m |
| Diagnosis delay | 6 m | 9 y 7 m | 8 m | 2 y 6 m | 1 y 1 m | 5 y 1 m | 6 y 8 m | 11 m | 3 y 3 m | 2 y 1 m | 9 m |
| Previous history | Gastrointestinal perforation | Takayasu arteritis | – | – | – | – | – | – | Anaphylactoid purpura | Hydrocele of tunica vaginalis | – |
| Family history | – | – | – | – | – | – | – | – | – | – | – |
| CLINICAL MANIFESTATIONS | |||||||||||
| Fever | Untypical | Untypical | Untypical | Untypical | Untypical | Untypical | Untypical | Typical | Typical | Untypical | Untypical |
| Duration | >1 week | >1 week | >1 week | <6 h | > weeks | > weeks | 3 days | 1 days | 1 days | >1 week | >1 week |
| Interval | – | – | – | – | – | – | – | 10–15 d | 15–30 d | – | – |
| Abdominal pain | + (severe) | + (mild) | + (mild) | + (mild) | |||||||
| Chest pain | |||||||||||
| Joint symptoms | + | + | + | + | + | + | + | ||||
| Rash | + | + | + | + | + | + | |||||
| Other symptoms | Oral ulcer | Physical retardation | Splenome galy |
Oral ulcer | |||||||
| Response to colchicine | + | + | + | + | + | + | |||||
| LABORATORY FINDINGS | |||||||||||
| Inflammatory markers | ESR↑ CRP↑ | ESR↑ CRP↑ | ESR↑ CRP↑ | ESR↑ CRP↑ | – | ESR↑ CRP↑ | ESR↑ CRP↑ | ESR↑ CRP↑ | ESR↑ CRP↑ | ESR↑ | ESR↑ CRP↑ |
| Cytokines | – | IL-6↑ TNF-α↑ | IL-6↑ TNF-α↑ | – | IL-6↑ TNF-α↑ | ||||||
| TEL-HASHOMER CRITERIA | |||||||||||
| Major criteria | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0 |
| Minor criteria | 2 | 1 | 1 | 2 | 1 | 1 | 1 | 0 | 1 | 1 | 2 |
| Supportive criteria | 2 | 5 | 5 | 3 | 5 | 5 | 5 | 2 | 2 | 5 | 3 |
| GENE MUTATIONS | |||||||||||
| Paternal | E148Q/P369S/R408Q/IVS8+8C>T | P369S/R408Q | P633L | E148Q | E148Q | L110P/E148Q | E230K | E148Q/P369S/R408Q/IVS8+8C>T | E148Q | E148Q | |
| Maternal | G304R | E148Q | L110P/E148Q | E148Q/IVS8+8C>T | L110P/E148Q | E148Q | L110P/E148Q | P115R | E148Q | L110P/E148Q | E148Q |
| Novel | F636Y | ||||||||||
ESR, erythrocyte sedimentation rate; CRP, C-reactive protein; IL-6, interleukin-6; TNF-α, tumor necrosis factor α; y, years; m, months.