Table 1.
Clinical and laboratory features of patients.
| Patient 1 | Patient 2 | Normal Range | |
|---|---|---|---|
| Age (years) | 13 | 6 | |
| Age at diagnosis (years) | 10 | 6 | |
| Sex | Female | Male | |
| Clinical data | |||
| Splenomegaly/Hepatomegaly | + | + | |
| Lymphadenopathy | + | + | |
| Autoimmunity | |||
| Anemia | + | + | |
| Thrombopenia | + | + | |
| Neutropenia | + | + | |
| Laboratory results | |||
| Lymphocyte count (cells/µL) | 1450 | 3025 | 1800–2200 |
| T-cell (%) | |||
| CD3 | 88.5 | 77.9 | 60–85 |
| CD4 | 81.2 | 43.2 | 29–59 |
| CD8 | 5.28 | 28.9 | 19–48 |
| DN | 1.8 | 3.2 | <1% |
| B-cells (%) | |||
| CD19 | - | 12.7 | 8–20 |
| CD27+ | - | - | 8–45 |
| IgD-CD27+ (switching) | - | - | 5–25 |
| CD21Low | - | - | 1.5–9 |
| Serum immunoglobulins | |||
| (mg/dl) | |||
| IgG | 2557 | 3596 | 400–1000 |
| IgA | 452 | 200 | 68–385 |
| IgM | 292 | 328 | 60–264 |
| Plasma biomarkers (pg/mL) | |||
| IL-10 | - | - | |
| sFalL | - | - | |
| sCD25 (U/mL) | - | - | |
| Vitamin B12 (pg/mL) | - | 1412 | 180–914 |
| Treatment | Corticosteroids, spironolactone, ursodeoxycholic acid, azathioprine, Mycophenolate, Red Blood Cells transfusions |
Corticosteroids, Mycophenolate |