HSCT outcome of the 29 NEMO-deficient patients
| Patient . | GVHD . | Symptoms after HSCT . | Status . | Cause of death . |
|---|---|---|---|---|
| 1 | Yes | Graft failure after first HSCT | Alive | |
| 1bis | No | Partial cutaneous improvement, colitis, brain pseudotumor | ||
| 2 | No | Warts | Alive | |
| 3 | Yes | Skin rash | Alive | |
| 4 | Yes | None | Alive | |
| 5 | Yes | Colitis, CMV reactivation | Alive | |
| 6 | No | VZV encephalitis and bacterial infections | Alive | |
| 7 | No | Severe colitis | Alive | |
| 8 | No | VOD | Dead | VOD |
| 9 | No | Graft failure after first HSCT | Dead | ARDS (parainfluenza virus infection) |
| 9bis | No | Bacterial and viral infections, colitis | ||
| 10 | Yes | Multiple papillomas virus | Alive | |
| 11 | Yes | Bacterial and viral infections | Alive | |
| 12 | Yes | Graft failure after first HSCT | Alive | |
| 12bis | No | CMV, EBV, and ADV reactivation | ||
| 13 | No | Warts, VZV encephalopathy | Alive | |
| 14 | No | Colitis, chronic lung disease, arthropathy, arteriopathy* | Alive | |
| 15 | No | None | Alive | |
| 16 | No | Allergies to sulfamides and walnuts | Alive | |
| 17 | NR | BK virus cystitis | Alive | |
| 18 | NR | Intracranial bleeding | Dead | Intracranial bleeding |
| 19 | No | Graft failure after first HSCT | Dead | Septic shock |
| 19bis | No | Bacterial septic shock | ||
| 20 | No | Transient idiopathic intracranial hypertension | Alive | |
| 21 | No | EBV viremia | Alive | |
| 22 | No | Mycobacterial disseminated infection, HSV pneumonitis | Dead | Disseminated mycobacterial infection |
| 23 | Yes | Bacterial infection | Alive | |
| 24 | Yes | Colitis, Pseudomonas infection | Alive | |
| 25 | No | Severe RSV infection 1 y post HSCT | Alive | |
| 26 | Yes | Bacterial septic shock | Dead | Septic shock |
| 27 | Yes | None | Alive | |
| 28 | Yes | Bacterial septic shock | Dead | Septic shock |
| 29 | Yes | CMV reactivation, colitis | Alive |
| Patient . | GVHD . | Symptoms after HSCT . | Status . | Cause of death . |
|---|---|---|---|---|
| 1 | Yes | Graft failure after first HSCT | Alive | |
| 1bis | No | Partial cutaneous improvement, colitis, brain pseudotumor | ||
| 2 | No | Warts | Alive | |
| 3 | Yes | Skin rash | Alive | |
| 4 | Yes | None | Alive | |
| 5 | Yes | Colitis, CMV reactivation | Alive | |
| 6 | No | VZV encephalitis and bacterial infections | Alive | |
| 7 | No | Severe colitis | Alive | |
| 8 | No | VOD | Dead | VOD |
| 9 | No | Graft failure after first HSCT | Dead | ARDS (parainfluenza virus infection) |
| 9bis | No | Bacterial and viral infections, colitis | ||
| 10 | Yes | Multiple papillomas virus | Alive | |
| 11 | Yes | Bacterial and viral infections | Alive | |
| 12 | Yes | Graft failure after first HSCT | Alive | |
| 12bis | No | CMV, EBV, and ADV reactivation | ||
| 13 | No | Warts, VZV encephalopathy | Alive | |
| 14 | No | Colitis, chronic lung disease, arthropathy, arteriopathy* | Alive | |
| 15 | No | None | Alive | |
| 16 | No | Allergies to sulfamides and walnuts | Alive | |
| 17 | NR | BK virus cystitis | Alive | |
| 18 | NR | Intracranial bleeding | Dead | Intracranial bleeding |
| 19 | No | Graft failure after first HSCT | Dead | Septic shock |
| 19bis | No | Bacterial septic shock | ||
| 20 | No | Transient idiopathic intracranial hypertension | Alive | |
| 21 | No | EBV viremia | Alive | |
| 22 | No | Mycobacterial disseminated infection, HSV pneumonitis | Dead | Disseminated mycobacterial infection |
| 23 | Yes | Bacterial infection | Alive | |
| 24 | Yes | Colitis, Pseudomonas infection | Alive | |
| 25 | No | Severe RSV infection 1 y post HSCT | Alive | |
| 26 | Yes | Bacterial septic shock | Dead | Septic shock |
| 27 | Yes | None | Alive | |
| 28 | Yes | Bacterial septic shock | Dead | Septic shock |
| 29 | Yes | CMV reactivation, colitis | Alive |
The “bis” for patients 1, 9, 12 and 19 corresponds to the second HSCT.
ARDS, acute respiratory distress syndrome; RSV, respiratory syncytial virus.
Unexplained cerebral arteriopathy of the circle of Willis requiring surgical bypass.