Description of patients with autoimmunity after transplant
| . | P7 . | P8 . | P12 . | P15 . | P17 . | P20 . | P21 . | P29 . | P30 . | P31 . | P36 . | P37 . | P38 . | P41 . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CGD | gp91 | gp91 | p67 | gp91 | gp91 | p47 | gp91 | gp91 | gp91 | gp91 | p47 | gp91 | p47 | p22 | ||
| Clinical presentation at diagnosis | Liver and skin abscess CGD colitis Extrinsic allergic alveolitis | Invasive Aspergillosis BCG-osis | CGD colitis Osteomyelitis | CGD colitis Urethral granuloma | Lymphadenitis Pancreatitis Liver abscess Pneumonia Sepsis ITP | Skin and perianal abscesses Recurrent URTI/OMA Asthma | Recurrent LRTI | Colitis Perianal disease Lymphadenitis | Perianal disease Recurrent LRTI | Neonatal rash Recurrent LRTI Diarrhea Gastric obstruction Short stature | Liver abscess Fungal chest infection | Fungal chest infection | Skin granulomas Pseudomonas infection Rothia bacteremia Ground glass change | Colitis Liver abscess Lymphadenopathy Atypical mycobacteria infection | ||
| Age at HSCT (years) | 3.4 | 0.9 | 3.1 (first) | 4.4 (second) | 5.4 | 6.3 | 8.7 | 4.4 (first) | 8.2 (second) | 12.4 | 10.6 | 2.2 | 12.3 | 1.5 | 5.4 | 13.2 |
| Donor | MMUD | MUD | MUD | MMUD | MSD | MMUD | MUD | MUD | MUD | MUD | MMUD | MMUD | MSD | MUD | MMUD | MUD |
| Source | BM | PBSC | PBSC | PBSC | BM | Cord | BM | PBSC | PBSC | BM | BM | BM | BM | Cord | PBSC | PBSC |
| Conditioning | RIC | RIC | RIC | RIC | MAC | MAC | RIC | RIC | RIC | RIC | RIC | RIC | RIC | MAC | RIC | RIC |
| aGvHD | Yes | Yes | No | Yes | No | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes | No | No |
| cGvHD | No | No | No | No | No | No | No | No | Yes | No | No | No | No | No | No | No |
| Autoimmunity1 (AI1) | Hashimoto | AHIA | GBS-like | ADEM | AIHA | AIT | Polyarthritis | Grave’s disease | GBS-like | AIHA | AIT | AIHA | AIHA | Thyroid swelling with +ab | ||
| Time to AI1 (m)π | 80 | 6 | 28 | 14 | 13 | 9 | 51 | 58 | 4 | 4 | 3 | 14 | 8 | 49 | ||
| Chimerism at AI1 onset | WB 100% | WB 100% | WB 100% | WB 100% | WB 100% | WB 100% | WB 100% | CD3 53%, CD15 100% | WB 98% | CD3 89%, CD15 93% | WB 100% | WB 100% | CD3 63%, CD15 100% | CD3 67%, CD15 9% | ||
| Treatment for AI1 | Levothyroxine | Steroids-MMF-Rituximab-Sirolimus | Steroids-IVIG-Gabapentin | Steroids | Steroids-Rituximab | IVIG | Steroids | Propranolol-Carbimazole-Levothyroxine | Steroids-NCA-Acetazolamide-Amitriptyline-Gabapentin | Rituximab | IVIG-Steroids-Rituximab | Steroids-Rituximab | Steroids-Rituximab | None | ||
| Autoimmunity2 (AI2) | | | | | Immune complex glomerulonephritis | | | | | Nephrotic syndrome | Autoimmune neutropenia | | ITP | / | ||
| Chimerism at AI2 onset | | | | | CD3 86%, CD15 100% | | | | | CD3 89%, CD15 93% | CD3 100%, CD15 100% | | CD3 64%, CD15 79% | | ||
| Time to AI2 (mo) π | | | | | 97 | | | | | 5 | 3.7 | | 29 | | ||
| Treatment for AI2 | | | | | Steroids-MMF-Tacrolimus-Enalapril | | | | | | | | | | ||
| Any AI in the first 2 years | No | Yes | No | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Yes | No | ||
| Any AI >2 year | Yes | Yes | Yes | No | Yes | No | Yes | Yes | No | No | No | No | Yes | Yes | ||
| Second intervention | None | None | DLI + second HSCT | None | None | None | Gene therapy + second HSCT | None | None | None | None | None | None | DLI | ||
| IS at last FU | None | Sirolimus-Steroid | None | None | None | None | None | None | None | None | None | None | None | None | ||
| Outcome AI1-AI2 | Stable on treatment | Persisting | Resolved | Resolved | Resolved, stable on treatments | Resolved | Resolved | Stable on treatments | Resolved | Resolved | Resolved | Resolved | Resolved | Monitoring | ||
| . | P7 . | P8 . | P12 . | P15 . | P17 . | P20 . | P21 . | P29 . | P30 . | P31 . | P36 . | P37 . | P38 . | P41 . | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CGD | gp91 | gp91 | p67 | gp91 | gp91 | p47 | gp91 | gp91 | gp91 | gp91 | p47 | gp91 | p47 | p22 | ||
| Clinical presentation at diagnosis | Liver and skin abscess CGD colitis Extrinsic allergic alveolitis | Invasive Aspergillosis BCG-osis | CGD colitis Osteomyelitis | CGD colitis Urethral granuloma | Lymphadenitis Pancreatitis Liver abscess Pneumonia Sepsis ITP | Skin and perianal abscesses Recurrent URTI/OMA Asthma | Recurrent LRTI | Colitis Perianal disease Lymphadenitis | Perianal disease Recurrent LRTI | Neonatal rash Recurrent LRTI Diarrhea Gastric obstruction Short stature | Liver abscess Fungal chest infection | Fungal chest infection | Skin granulomas Pseudomonas infection Rothia bacteremia Ground glass change | Colitis Liver abscess Lymphadenopathy Atypical mycobacteria infection | ||
| Age at HSCT (years) | 3.4 | 0.9 | 3.1 (first) | 4.4 (second) | 5.4 | 6.3 | 8.7 | 4.4 (first) | 8.2 (second) | 12.4 | 10.6 | 2.2 | 12.3 | 1.5 | 5.4 | 13.2 |
| Donor | MMUD | MUD | MUD | MMUD | MSD | MMUD | MUD | MUD | MUD | MUD | MMUD | MMUD | MSD | MUD | MMUD | MUD |
| Source | BM | PBSC | PBSC | PBSC | BM | Cord | BM | PBSC | PBSC | BM | BM | BM | BM | Cord | PBSC | PBSC |
| Conditioning | RIC | RIC | RIC | RIC | MAC | MAC | RIC | RIC | RIC | RIC | RIC | RIC | RIC | MAC | RIC | RIC |
| aGvHD | Yes | Yes | No | Yes | No | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | Yes | No | No |
| cGvHD | No | No | No | No | No | No | No | No | Yes | No | No | No | No | No | No | No |
| Autoimmunity1 (AI1) | Hashimoto | AHIA | GBS-like | ADEM | AIHA | AIT | Polyarthritis | Grave’s disease | GBS-like | AIHA | AIT | AIHA | AIHA | Thyroid swelling with +ab | ||
| Time to AI1 (m)π | 80 | 6 | 28 | 14 | 13 | 9 | 51 | 58 | 4 | 4 | 3 | 14 | 8 | 49 | ||
| Chimerism at AI1 onset | WB 100% | WB 100% | WB 100% | WB 100% | WB 100% | WB 100% | WB 100% | CD3 53%, CD15 100% | WB 98% | CD3 89%, CD15 93% | WB 100% | WB 100% | CD3 63%, CD15 100% | CD3 67%, CD15 9% | ||
| Treatment for AI1 | Levothyroxine | Steroids-MMF-Rituximab-Sirolimus | Steroids-IVIG-Gabapentin | Steroids | Steroids-Rituximab | IVIG | Steroids | Propranolol-Carbimazole-Levothyroxine | Steroids-NCA-Acetazolamide-Amitriptyline-Gabapentin | Rituximab | IVIG-Steroids-Rituximab | Steroids-Rituximab | Steroids-Rituximab | None | ||
| Autoimmunity2 (AI2) | | | | | Immune complex glomerulonephritis | | | | | Nephrotic syndrome | Autoimmune neutropenia | | ITP | / | ||
| Chimerism at AI2 onset | | | | | CD3 86%, CD15 100% | | | | | CD3 89%, CD15 93% | CD3 100%, CD15 100% | | CD3 64%, CD15 79% | | ||
| Time to AI2 (mo) π | | | | | 97 | | | | | 5 | 3.7 | | 29 | | ||
| Treatment for AI2 | | | | | Steroids-MMF-Tacrolimus-Enalapril | | | | | | | | | | ||
| Any AI in the first 2 years | No | Yes | No | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Yes | No | ||
| Any AI >2 year | Yes | Yes | Yes | No | Yes | No | Yes | Yes | No | No | No | No | Yes | Yes | ||
| Second intervention | None | None | DLI + second HSCT | None | None | None | Gene therapy + second HSCT | None | None | None | None | None | None | DLI | ||
| IS at last FU | None | Sirolimus-Steroid | None | None | None | None | None | None | None | None | None | None | None | None | ||
| Outcome AI1-AI2 | Stable on treatment | Persisting | Resolved | Resolved | Resolved, stable on treatments | Resolved | Resolved | Stable on treatments | Resolved | Resolved | Resolved | Resolved | Resolved | Monitoring | ||
AI1, first autoimmunity episode; AI2, second autoimmunity episode; BCG, bacillus Calmette-Guerin; IS, on immunosuppressives; IVIG, intravenous immunoglobulin; LRTI, lower respiratory tract infection; MMF, mycophenolate mofetil; NCA, neurocirculatory asthenia; OMA, otitis media acute; PBSC, peripheral blood stem cell; URTI, upper respiratory tract infection. π: time to AI1 or time to AI2 is time from first HSCT to development of AI1 or AI2.