Demographic and clinical characteristics at baseline
| . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . | Patient 5 . | Patient 6 . |
|---|---|---|---|---|---|---|
| Sex | M | F | F | M | M | M |
| Site | NIH, US | NIH, US | NIH, US | NIH, US | Motol University Hospital, CZ | Erasmus MC, NL |
| BMI, kg/m2/ body weight, kg | 22.5/67 | 24.6/67 | 27.2/67 | 18.9/53 | 18.0/57 | 21.4/73 |
| Age of onset/ enrollment, y* | 0.5/17 | 2/24 | 2/17 | 6/20 | 0.5/25 | 0.5/31 |
| Mutation | E525K | E1021K | E1021K | E1021K | E1021K | E1021K |
| Clinically significant cytopenias | No | Thrombocytopenia, neutropenia | No | Lymphopenia, neutropenia, anemia | No | Thrombocytopenia |
| Pulmonary problems | Bronchiectasis, asthma | No | Asthma, recurrent bronchitis | Chronic sinusitis, airway disease, bronchiectasis | Recurrent infections, bronchiectasis, COPD | Chronic sinusitis, bronchial wall thickening |
| Lymphoma | No | 19 y/o, stage IV large BCL, chemotherapy† | No | No | 11 y/o, stage III HL, chemotherapy‡ and radiotherapy | 20 y/o, stage IA, NHL, partial parotidectomy and local radiotherapy |
| Infection history | CMV/EBV | No | EBV | No | No | EBV |
| IgG replacement therapy | SCIG | IVIG | SCIG | None | IVIG | IVIG |
| Previous treatment with mTOR inhibitor§ | Yes | Yes | No | No | Yes | No |
| Reference, patient ID | 3, D.II.1 | 2, F1P1 | — | — | 20, P218 | 17, PI3K-2.2 |
| . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . | Patient 5 . | Patient 6 . |
|---|---|---|---|---|---|---|
| Sex | M | F | F | M | M | M |
| Site | NIH, US | NIH, US | NIH, US | NIH, US | Motol University Hospital, CZ | Erasmus MC, NL |
| BMI, kg/m2/ body weight, kg | 22.5/67 | 24.6/67 | 27.2/67 | 18.9/53 | 18.0/57 | 21.4/73 |
| Age of onset/ enrollment, y* | 0.5/17 | 2/24 | 2/17 | 6/20 | 0.5/25 | 0.5/31 |
| Mutation | E525K | E1021K | E1021K | E1021K | E1021K | E1021K |
| Clinically significant cytopenias | No | Thrombocytopenia, neutropenia | No | Lymphopenia, neutropenia, anemia | No | Thrombocytopenia |
| Pulmonary problems | Bronchiectasis, asthma | No | Asthma, recurrent bronchitis | Chronic sinusitis, airway disease, bronchiectasis | Recurrent infections, bronchiectasis, COPD | Chronic sinusitis, bronchial wall thickening |
| Lymphoma | No | 19 y/o, stage IV large BCL, chemotherapy† | No | No | 11 y/o, stage III HL, chemotherapy‡ and radiotherapy | 20 y/o, stage IA, NHL, partial parotidectomy and local radiotherapy |
| Infection history | CMV/EBV | No | EBV | No | No | EBV |
| IgG replacement therapy | SCIG | IVIG | SCIG | None | IVIG | IVIG |
| Previous treatment with mTOR inhibitor§ | Yes | Yes | No | No | Yes | No |
| Reference, patient ID | 3, D.II.1 | 2, F1P1 | — | — | 20, P218 | 17, PI3K-2.2 |
All patients presented with splenomegaly and lymphadenopathy.
BCL, B-cell lymphoma; BMI, body mass index; COPD, chronic obstructive pulmonary disease; CZ, Czech Republic; F, female; HL, Hodgkin lymphoma; ID, identifier; IVIG, IV immunoglobulin; M, male; NHL, non-Hodgkin lymphoma; NIH, National Institutes of Health; NL, The Netherlands; SCIG, subcutaneous immunoglobulin; US, United States; y/o, years old.
Age of onset is the onset of symptoms due to hypogammaglobulinemia.
Six cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP).
Doxorubicin, bleomycin, vincristine, etoposide, prednisone, cyclophosphamide (DBVE-PC).
All patients receiving previous treatment with mTOR inhibitor had a washout period of a minimum 6 weeks prior to start of leniolisib treatment.