Patients’ characteristics and therapeutic responses
| Patient, sex . | AIC PID . | Age at diagnosis (y) . | Age at D1-A (y) . | Number of IM . | Active AIC and IM at D1-A . | Number of second line before A . | Previous second lines . |
|---|---|---|---|---|---|---|---|
| 1, Male* | pES CTLA-4 | 5.5 | 26 | 4 | GLILD +++ Digestive +++ Arthritis ++ LP + | 4 | RTX ×8, SPX, AZA, Cy |
| 2, Male* | pES CTLA-4 | 14.1 | 26.6 | 1 | ITP PR GLILD +++ BD ++ | 6 | CICLO, HCQ, SPX, RTX ×2, ELT, AZA |
| 3, Male* | pES CTLA-4 | 12.6 | 19.7 | 3 | ITP NR BD ++ Digestive +++ Arthritis ++ | 2 | RTX ×4, ELT, ROMI |
| 4, Male* | pES CTLA-4 | 15.2 | 18.5 | 4 | GLILD ++ Digestive ++ Alopecia + Diabetes | 0 | — |
| 5, Male | pES CTLA-4 | 7.1 | 8.7 | 3 | GLILD ++ Digestive ++ Keratitis+ | 1 | RTX ×2 |
| 6, Male† | pES LRBA | 2.8 | 20 | 2 | BD ++ Digestive +++ | 7 | CICLO, AZA, RTX ×4, MMF, INF, ADA, TMS |
| 7, Female*,† | pES LRBA | 2.6 | 14.8 | 3 | GLILD + Digestive + LP +++ | 7 | Cy, RTX, 6MP, SPX, MMF, SRL, EVE |
| 8, Male*,† | pES LRBA | 2.2 | 9.7 | 5 | GLILD, BD ++ Digestive ++ LP ++ Keratitis ++ Tubulopathy + | 2 | MMF, SRL |
| 9, Female*,† | AIHA DEF6 | 1.4 | 2.3 | 0 | AIHA: NR | 5 | RTX, Cy, AZA, BORTZ, SRL |
| Patient, sex . | AIC PID . | Age at diagnosis (y) . | Age at D1-A (y) . | Number of IM . | Active AIC and IM at D1-A . | Number of second line before A . | Previous second lines . |
|---|---|---|---|---|---|---|---|
| 1, Male* | pES CTLA-4 | 5.5 | 26 | 4 | GLILD +++ Digestive +++ Arthritis ++ LP + | 4 | RTX ×8, SPX, AZA, Cy |
| 2, Male* | pES CTLA-4 | 14.1 | 26.6 | 1 | ITP PR GLILD +++ BD ++ | 6 | CICLO, HCQ, SPX, RTX ×2, ELT, AZA |
| 3, Male* | pES CTLA-4 | 12.6 | 19.7 | 3 | ITP NR BD ++ Digestive +++ Arthritis ++ | 2 | RTX ×4, ELT, ROMI |
| 4, Male* | pES CTLA-4 | 15.2 | 18.5 | 4 | GLILD ++ Digestive ++ Alopecia + Diabetes | 0 | — |
| 5, Male | pES CTLA-4 | 7.1 | 8.7 | 3 | GLILD ++ Digestive ++ Keratitis+ | 1 | RTX ×2 |
| 6, Male† | pES LRBA | 2.8 | 20 | 2 | BD ++ Digestive +++ | 7 | CICLO, AZA, RTX ×4, MMF, INF, ADA, TMS |
| 7, Female*,† | pES LRBA | 2.6 | 14.8 | 3 | GLILD + Digestive + LP +++ | 7 | Cy, RTX, 6MP, SPX, MMF, SRL, EVE |
| 8, Male*,† | pES LRBA | 2.2 | 9.7 | 5 | GLILD, BD ++ Digestive ++ LP ++ Keratitis ++ Tubulopathy + | 2 | MMF, SRL |
| 9, Female*,† | AIHA DEF6 | 1.4 | 2.3 | 0 | AIHA: NR | 5 | RTX, Cy, AZA, BORTZ, SRL |
| Ongoing and concomitant (+) treatments at D1-A . | Number of doses of A in the first year . | Total duration of A (y) . | Efficiency on AIC and IM . | Treatment sparing . | Follow-up from diagnosis (y) . | Age at last follow-up (y) . |
|---|---|---|---|---|---|---|
| No | 24 | 5.1 + | GLILD + Digestive 0 Arthritis + LP 0 | NA | 25.7 | 31.2 |
| CS (0.07 mg/kg/d) | 15 | 4 + | ITP CR GLILD + DDB + | CS STOP m36 | 16.5 | 30.6 |
| Romiplostim (7.6 µg/kg/w) | 11 | 1.6 + | ITP PR BD + Digestive 0 Arthritis 0 | romiplostim STOP m12 | 8.7 | 21.3 |
| No | 22 | 3.6 + | GLILD 0 Digestive 0 Alopecia + Diabetes | NA | 6.9 | 22.1 |
| No | 22 | 2.9 + | GLILD + Digestive 0 Keratitis 0 | NA | 4.5 | 11.5 |
| + HCQ m4 (4 mg/ kg/d) | 23 | 3.1 STOP | BD 0 Digestive +++ | NA | 21.3 | 24.1 |
| Everolimus (0.06 mg/kg/d) +HCQ m0 (7 mg/kg/d) | 14 | 5.1 + | GLILD + Digestive + LP 0 | everolimus STOP m8 | 17.3 | 19.9 |
| CS (0.1 mg/kg/2d) Rapamune (0.04 mg/kg/d) +HCQ m0 (4 mg/kg/d) | 24 | 4 + | GLILD, BD 0 Digestive 0 LP 0 Keratitis 0 Tubulopathy + | CS STOP m35 Rapamune STOP m24 | 11.6 | 13.8 |
| CS (0.4 mg/kg/d) Rapamune (0.24 mg/kg/d) | 17 | 1.7 + | AIHA PR | CS STOP m14 Rapamune ↓ (0.11 mg/kg/d) | 2.6 | 4 |
| Ongoing and concomitant (+) treatments at D1-A . | Number of doses of A in the first year . | Total duration of A (y) . | Efficiency on AIC and IM . | Treatment sparing . | Follow-up from diagnosis (y) . | Age at last follow-up (y) . |
|---|---|---|---|---|---|---|
| No | 24 | 5.1 + | GLILD + Digestive 0 Arthritis + LP 0 | NA | 25.7 | 31.2 |
| CS (0.07 mg/kg/d) | 15 | 4 + | ITP CR GLILD + DDB + | CS STOP m36 | 16.5 | 30.6 |
| Romiplostim (7.6 µg/kg/w) | 11 | 1.6 + | ITP PR BD + Digestive 0 Arthritis 0 | romiplostim STOP m12 | 8.7 | 21.3 |
| No | 22 | 3.6 + | GLILD 0 Digestive 0 Alopecia + Diabetes | NA | 6.9 | 22.1 |
| No | 22 | 2.9 + | GLILD + Digestive 0 Keratitis 0 | NA | 4.5 | 11.5 |
| + HCQ m4 (4 mg/ kg/d) | 23 | 3.1 STOP | BD 0 Digestive +++ | NA | 21.3 | 24.1 |
| Everolimus (0.06 mg/kg/d) +HCQ m0 (7 mg/kg/d) | 14 | 5.1 + | GLILD + Digestive + LP 0 | everolimus STOP m8 | 17.3 | 19.9 |
| CS (0.1 mg/kg/2d) Rapamune (0.04 mg/kg/d) +HCQ m0 (4 mg/kg/d) | 24 | 4 + | GLILD, BD 0 Digestive 0 LP 0 Keratitis 0 Tubulopathy + | CS STOP m35 Rapamune STOP m24 | 11.6 | 13.8 |
| CS (0.4 mg/kg/d) Rapamune (0.24 mg/kg/d) | 17 | 1.7 + | AIHA PR | CS STOP m14 Rapamune ↓ (0.11 mg/kg/d) | 2.6 | 4 |
6-MP, 6 mercaptopurine; A, abatacept; ADA, adalimumab; AIC, auto-immune cytopenia; AZA, azathioprine; BD, bronchial dilatation; BORTZ, bortezomib; CICLO, cyclosporine; CR, complete response; CS, corticosteroids; Cy, cyclophosphamide; D1-A, first day of abatacept initiation; ELT, eltrombopag; EVE, everolimus; GLILD, granulomatous lymphoid interstitial lung disease; HCQ, hydroxychloroquine; IM, immunopathological manifestations; INF, infliximab; LP, lymphoproliferation; m, month; MMF, mycophenolate mofetil; Nb, number; NR, non response; PID, primary immune deficiency; PR, partial response; ROMI, romiplostim; RTX, rituximab; SPX, splenectomy; SRL, sirolimus; TMS, temsirolimus; y, years.
A familial history of AIC or IM was in 7 of 9 patients.
Parents of patients 6, 7, 8, and 9 were consanguineous.