Details of hematopoetic stem cell transplantation in patients with primary immunodeficiency/immunodysregulatory syndromes complicated by LPD
| No. . | Diagnosis . | Age at BMT, y . | Type of BMT . | Conditioning . | GVHD prophylaxis . | Initial donor chimerism (mononuclear cells) . | Initial donor chimerism (Granulocytes) . | Acute GVHD . | Chronic GVHD . | Time to EBV viremia . | Max EBV load . | Treatment for EBV . | EBV clinical category . | PTLD . | PTLD therapy . | PTLD outcome . | Other complications . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Undefined CID | 13 | MSD PBSCT | TBI 200 cGy single fraction | CSA/MMF | Mixed (high level) | Mixed (high level) | Grade 1 skin | No | Pre-BMT | 17 900* | Rituximab continued from before transplantation | Fever but no PTLD | None | NA | NA | CMV retinitis (GCV implant); gastrointestinal obstruction due to adhesions |
| 2 | WAS | 18 | MUD BMT | Camp/Flu/Melph | CSA | Full | Full | No | No | D59 | 100 000* | Rituximab 2 times (D74, D81); EBV CTLs (D130) | Asymptomatic | None | NA | NA | Cryptosporidial diarrhea; Pleural effusions |
| 3 | IE | 6 | MUD BMT | Camp/Flu/Melph | CSA | Full | Full | Grade 3 skin/gut | No | D56 | 10 000* | EBV-CTLs (D160) | Asymptomatic | None | NA | NA | None |
| 4 | Undefined CID | 4 | MFD BMT | Camp/Flu/Melph | CSA | Full | Full | Grade 1 skin | No | D31 | 10 000* | No | PTLD | Liver lesions, cervical lymph nodes, fever, rash | Rituximab 3 times | Full resolution | VZV retinitis |
| 5 | ALPS | 8 | MUD PBSCT | Camp/Flu/Melph | CSA | Full | Full | No | Mild limited skin | D117 | 5 000† | No | Asymptomatic | None | NA | NA | CMV viremia |
| 6 | CHH | 11 | MUD BMT | Camp/Flu/Melph | CSA | Full | Full | Grade 1 skin | Mild limited skin | D22 | 27 000† | Rituximab | Fever but no PTLD | None | N/A | NA | Pulmonary aspergillosis |
| 7 | XLP | 12 | 1C-MMUD PBSCT | Camp/Flu/Melph | CSA/MMF | Full | Full | No | No | D141 | 50 000† | EBV-CTLs (D120) | Asymptomatic | None | NA | NA | Adenoviremia; seizures; pulmonary fungal infection |
| 8 | DALD | 7 | 1C-MMUD BMT | Camp/Flu/Melph | CSA/MMF | Full | Full | Grade 1 skin | No | Never detected | NA | NA | Asymptomatic | None | NA | NA | CMV viremia |
| No. . | Diagnosis . | Age at BMT, y . | Type of BMT . | Conditioning . | GVHD prophylaxis . | Initial donor chimerism (mononuclear cells) . | Initial donor chimerism (Granulocytes) . | Acute GVHD . | Chronic GVHD . | Time to EBV viremia . | Max EBV load . | Treatment for EBV . | EBV clinical category . | PTLD . | PTLD therapy . | PTLD outcome . | Other complications . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Undefined CID | 13 | MSD PBSCT | TBI 200 cGy single fraction | CSA/MMF | Mixed (high level) | Mixed (high level) | Grade 1 skin | No | Pre-BMT | 17 900* | Rituximab continued from before transplantation | Fever but no PTLD | None | NA | NA | CMV retinitis (GCV implant); gastrointestinal obstruction due to adhesions |
| 2 | WAS | 18 | MUD BMT | Camp/Flu/Melph | CSA | Full | Full | No | No | D59 | 100 000* | Rituximab 2 times (D74, D81); EBV CTLs (D130) | Asymptomatic | None | NA | NA | Cryptosporidial diarrhea; Pleural effusions |
| 3 | IE | 6 | MUD BMT | Camp/Flu/Melph | CSA | Full | Full | Grade 3 skin/gut | No | D56 | 10 000* | EBV-CTLs (D160) | Asymptomatic | None | NA | NA | None |
| 4 | Undefined CID | 4 | MFD BMT | Camp/Flu/Melph | CSA | Full | Full | Grade 1 skin | No | D31 | 10 000* | No | PTLD | Liver lesions, cervical lymph nodes, fever, rash | Rituximab 3 times | Full resolution | VZV retinitis |
| 5 | ALPS | 8 | MUD PBSCT | Camp/Flu/Melph | CSA | Full | Full | No | Mild limited skin | D117 | 5 000† | No | Asymptomatic | None | NA | NA | CMV viremia |
| 6 | CHH | 11 | MUD BMT | Camp/Flu/Melph | CSA | Full | Full | Grade 1 skin | Mild limited skin | D22 | 27 000† | Rituximab | Fever but no PTLD | None | N/A | NA | Pulmonary aspergillosis |
| 7 | XLP | 12 | 1C-MMUD PBSCT | Camp/Flu/Melph | CSA/MMF | Full | Full | No | No | D141 | 50 000† | EBV-CTLs (D120) | Asymptomatic | None | NA | NA | Adenoviremia; seizures; pulmonary fungal infection |
| 8 | DALD | 7 | 1C-MMUD BMT | Camp/Flu/Melph | CSA/MMF | Full | Full | Grade 1 skin | No | Never detected | NA | NA | Asymptomatic | None | NA | NA | CMV viremia |
MSD indicates matched sibling donor; MUD, matched unrelated donor; MFD, matched family donor; 1C-MMUD, 1C-antigen–mismatched unrelated donor; PBSCT, peripheral blood SCT; Camp, alemtuzumab 1 mg/kg; Flu, fludarabine 150 mg/m2; Melph, melphalan 140 mg/m2; GCV, ganciclovir; and NA, not applicable.
Maximum EBV load measured by semiquantitative PCR (see “Patients, materials, and methods”).
Maximum EBV load measured by quantitative PCR (see “Patients, materials, and methods”).