Clinical and laboratory features at presentation and at diagnosis of r/r disease
| Case . | Sex . | Age, y . | Initial presentation . | At relapsed/refractory disease . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Clinical features . | WBC, ×109/L . | Ferritin, ng/mL . | sCD25, U/mL . | Plasma EBV-DNA, /mL . | Genetic defect . | Clinical features . | WBC, ×109/L . | Ferritin, ng/mL . | sCD25, U/mL . | Plasma EBV-DNA, /mL . | |||
| 1 | M | 29 | Fever, cytopenia, splenomegaly | 0.94 | >2000 | >7500 | 3.40E+05 | ND | Fever, cytopenia, splenomegaly | 0.27 | 1430 | >7500 | 1.20E+04 |
| 2 | M | 23 | Fever, cytopenia, splenomegaly, liver dysfunction | 0.57 | >2000 | 4344 | 2.37E+05 | UNC13D heterozygous c754-8C>T | Fever, cytopenia, splenomegaly, liver dysfunction | 0.89 | >2000 | 6406 | 6.19E+04 |
| 3 | F | 20 | Fever, cytopenia | 1.26 | >2000 | 2030 | 7.36E+05 | UNC13D heterozygous c1232G>A | Fever, cytopenia | 0.88 | 1190 | 1214 | 2.65E+02 |
| 4 | F | 15 | Fever, cytopenia, respiratory failure | 1.07 | >2000 | >7500 | 2.10E+07 | ND | Fever, cytopenia | 1.32 | >2000 | 751 | 5.51E+02 |
| 5 | M | 35 | Fever | 3.82 | 1794 | 4816 | 3.99E+04 | ND | Fever | 7.3 | 755.9 | 997 | 1.04E+04 |
| 6 | M | 36 | Fever, cytopenia | 0.64 | 1604 | >7500 | 1.56E+05 | ND | Fever | 2.89 | 169.6 | 434 | 8.80E+01 |
| 7 | F | 16 | Fever, cytopenia | 1.35 | >2000 | >7500 | 5.16E+04 | ND | Fever, cytopenia | 2.85 | 303.8 | 1884 | 2.80E+02 |
| Case . | Sex . | Age, y . | Initial presentation . | At relapsed/refractory disease . | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Clinical features . | WBC, ×109/L . | Ferritin, ng/mL . | sCD25, U/mL . | Plasma EBV-DNA, /mL . | Genetic defect . | Clinical features . | WBC, ×109/L . | Ferritin, ng/mL . | sCD25, U/mL . | Plasma EBV-DNA, /mL . | |||
| 1 | M | 29 | Fever, cytopenia, splenomegaly | 0.94 | >2000 | >7500 | 3.40E+05 | ND | Fever, cytopenia, splenomegaly | 0.27 | 1430 | >7500 | 1.20E+04 |
| 2 | M | 23 | Fever, cytopenia, splenomegaly, liver dysfunction | 0.57 | >2000 | 4344 | 2.37E+05 | UNC13D heterozygous c754-8C>T | Fever, cytopenia, splenomegaly, liver dysfunction | 0.89 | >2000 | 6406 | 6.19E+04 |
| 3 | F | 20 | Fever, cytopenia | 1.26 | >2000 | 2030 | 7.36E+05 | UNC13D heterozygous c1232G>A | Fever, cytopenia | 0.88 | 1190 | 1214 | 2.65E+02 |
| 4 | F | 15 | Fever, cytopenia, respiratory failure | 1.07 | >2000 | >7500 | 2.10E+07 | ND | Fever, cytopenia | 1.32 | >2000 | 751 | 5.51E+02 |
| 5 | M | 35 | Fever | 3.82 | 1794 | 4816 | 3.99E+04 | ND | Fever | 7.3 | 755.9 | 997 | 1.04E+04 |
| 6 | M | 36 | Fever, cytopenia | 0.64 | 1604 | >7500 | 1.56E+05 | ND | Fever | 2.89 | 169.6 | 434 | 8.80E+01 |
| 7 | F | 16 | Fever, cytopenia | 1.35 | >2000 | >7500 | 5.16E+04 | ND | Fever, cytopenia | 2.85 | 303.8 | 1884 | 2.80E+02 |
F, female; M, male; ND, not detected; WBC, white blood cell.