Table 1.
Characteristics of relapsing hyperinflammatory syndrome in the R688* patient
| Characteristics | ||
|---|---|---|
| Episode 1 | Episode 2 | |
| Age | 11 years | 13 years |
| Clinical manifestations | ||
| Fever (T > 38 °C) | >4 weeks | >2 weeks |
| Splenomegaly | Mild | Prominent |
| Hepatomegaly | Mild | Prominent |
| Lymphadenopathy | Present | Present |
| Biochemical features | ||
| Hemoglobin (g/dL) | 6.2 (11.5–15.5) | 9.9 (13–16) |
| Platelets (103/μL) | 42 (156–408) | 234 (156–408) |
| Leukocytes (103/μL) | 2.13 (4.5–12) | 5.57 (4.5–12) |
| Neutrophils (cells/μL) | 1299 (2500–8000) | 3130 (2500–8000) |
| Monocytes (cells/μL) | 50 (500–1000) | 260 (500–1000) |
| Lymphocytes (cells/μL) | 809 (1500–6500) | 1700 (1500–6500) |
| Ferritin (ng/μL) | 35199 (7–142) | 5162 (7–142) |
| Fibrinogen (mg/dL) | <60 (200–400) | 305 (200–400) |
| Triglycerides (mg/dL) | 870 (32–125) | 996 (32–125) |
| Soluble CD25 (pg/mL) | NA | 16944 (632–5054) |
| Features of hemophagocytosis | ||
| Bone marrow aspirate | Mild | NA |
| NK-cell activity | ||
| Target cell killing | NA | Normal |
| CD107a expression | NA | Normal |
| Additional features | ||
| Gamma-GT (U/L) | 908 (3–22) | 274 (2–42) |
| AST (U/L) | 1482 (11–50) | 209 (0–37) |
| ALT (U/L) | 199 (7–40) | 168 (7–40) |
Units of measurements are mentioned in parentheses, bold characters indicate values below or above normal range. Normal ranges are indicated in parentheses