Table 2.
Transplant outcome and resolution of PID-related complications
| Diagnosis | Acute GVHD (grade) | Chronic GVHD | CMV status (R/D) | Infectious complications | Other complications | Days F/U | Present status | Immuno- suppression at last F/U (Y/N) | Ig replace-ment (continues, off, or N/A) | Peripheral blood chimerism at last F/U (PBMC)* | Outcome | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | CVID | N/A | N/A | +/+ | Sepsis | Multi organ failure | 12 | Dead | Y | N/A | N/A | Died TRM (sepsis) |
| 2 | CVID | None | Probable pulmonary | +/+ | CMV reactivation. Recurrent bacterial chest infection | ITP. Progressive pulmonary fibrosis/bronchiolitis obliterans | 3434 | Dead | Y | Continued until death | Full donor chimerism | Died (progressive respiratory failure secondary to preexisting pulmonary fibrosis ± pulmonary GVHD) |
| 3 | APDS2 | Grade 1 gut | Limited (gut) | +/+ | Intermittent respiratory tract infections | Papillary renal cell carcinoma (unrelated) | 730 | Alive | N | Off | Full donor chimerism | Well |
| 4 | Autoimmune LPD | None | Limited post DLI | +/− | None | Esophageal stricture secondary to peptic ulceration. DLI ×3 for mixed chimerism | 4358 | Alive | N | N/A | Full donor chimerism | Well |
| 5 | Autoimmune LPD | None | None | −/− | None | CSA-induced neurotoxicity DLI ×4 for presumed PTLD (no biopsy, FDG-avid lymphadenopathy on CT/PET scan) | 3378 | Alive | N | Off | Full donor chimerism | Well. Neurotoxicity resolved |
| 6 | Cγ-chain SCID | N/A | N/A | +/+ | Sepsis | Multiorgan failure | 7 | Dead | Y | N/A | N/A | Died TRM (sepsis) |
| 7 | Absolute NK deficiency | Grade 1 skin | None | +/+ | Persistent planar warts (HPV2) | None | 2015 | Alive | N | Off | Full donor chimerism | Persistent extensive warts |
| 8 | DCML deficiency | Grade 2 skin and gut | None | +/+ | CMV reactivation (resolved). Radial excision for persistent HPV associated AIN and VIN | Acute thyroiditis (antibody negative). Ovarian failure | 1221 | Alive | N | N/A | Full donor chimerism | Well. Thyroiditis resolved. GVHD resolved |
| 9 | AR IL12Recβ deficiency | Grade 1 skin | Limited (gut) | −/− | EBV reactivation treated with rituximab | None | 1083 | Alive | N | Off | Full donor chimerism | Well |
| 10 | Rag2/red cell aplasia | None | None | −/− | None | Delayed engraftment | 700 | Alive | N | Off | Stable mixed chimerism (full donor in B-cell fraction, mixed in other lineages) | Well. Resolution of granulomatous skin lesions on shins |
| 11 | X-linked LPD | None | None | +/+ | BK virus cystitis | None | 3692 | Alive | N | Off | Stable mixed chimerism (mixed all lineages) | Well. Normal spermatozoa |
| 12 | Combined immune deficiency | Grade 2 skin | None | +/+ | CMV reactivation | Intermittent neutropenia | 1042 | Alive | N | Continues | Stable mixed chimerism (mixed all lineages) | Well |
| 13 | CD27 deficiency | Grade 2 skin | Limited (skin) | −/− | Rhinovirus. EBV reactivation treated with rituximab | None | 544 | Alive | N | Continues | Full donor chimerism | Well. CT/PET ongoing remission |
| 14 | Gata2 deficiency | None | None | +/− | Persistent perineal HPV with VIN3 | DLI ×3 for MC. Fibromyalgia. Chronic fatigue. Thyrotoxicosis | 1051 | Alive | N | N/A | Full donor chimerism | Well. Resolution of warts on hands and feet |
| 15 | XIAP deficiency | None | None | −/+ | Warts left foot and right index finger resolving | None | 629 | Alive | N | N/A | Stable mixed chimerism (mixed all lineages) | Well. No further colitis |
| 16 | Autoimmune LPD | Grade 2 skin | None | +/+ | CMV reactivation ×1 | Biopsy proven EBV PTLD treated with 4 cycles rituximab | 118 | Alive | N | N/A | Chimerism pending | Well. No further CMV or EBV reactivations |
| 17 | Gata 2 mutation | Grade 1 skin | None | −/− | Low-level EBV reactivation not requiring intervention | None | 209 | Alive | Y | N/A | Full donor chimerism | Well. Weaning cyclosporin |
| 18 | XIAP deficiency | None | None | +/− | None | Slow recovery of counts and persistent splenomegaly | 115 | Alive | Y | Off | Full donor chimerism | Well. Weaning cyclosporin. Trial off Ig as IgG in normal range at 4 mo post |
| 19 | AR-CGD | None | None | +/+ | CMV reactivation | Iron and vitamin D deficiency | 983 | Alive | N | N/A | Stable mixed chimerism (mixed all lineages) | Well. Viable sperm |
| 20 | AR-CGD | None | None | −/− | None | None | 971 | Alive | N | N/A | Stable mixed chimerism (full donor in PBMCs and B cells, mixed in T-cell and granulocyte fractions) | Well |
| 21 | AR-CGD | None | None | +/+ | Bilateral lower lobe consolidation (no organisms identified) | Hemophagocytosis and prolonged cytopenias; granulomatous meningitis (no pathogen identified); acute hepatic failure | 210 | Dead | Y | N/A | Full donor chimerism | Died TRM (multiorgan failure) |
| 22 | Variant CGD | Grade 1 skin | None | −/− | None | Premature ovarian insufficiency | 992 | Alive | N | N/A | Stable mixed chimerism (full donor in B-cell fraction, mixed in other lineages) | Well. Resolution of granulomatous colitis |
| 23 | X-linked CGD | Grade 3 liver | Steroid refractory, extensive | +/− | Multiple infective complications associated with immune suppression for GVHD | 616 | Dead | Y | N/A | Full donor chimerism | Died TRM (steroid refractory extensive chronic GVHD) | |
| 24 | X-linked CGD | None | None | −/− | None | Mild renal impairment | 1858 | Alive | N | N/A | Stable mixed chimerism (mixed in all lineages) | Well. Renal impairment resolved |
| 25 | X-linked CGD | Grade 1 skin | None | −/− | Adenoviraemia | EBV PTLD treated with 4 cycles rituximab | 1003 | Alive | N | N/A | Full donor chimerism | Well |
| 26 | X-linked CGD | Grade 1 skin | Limited (skin) | −/− | Pulmonary aspergillosis | Renal impairment (resolved), CD34+ topup for prolonged cytopenias | 1319 | Alive | N | N/A | Full donor chimerism | Well. Some viable sperm suitable for ICSI |
| 27 | X-linked CGD | Grade 1 skin | Limited (skin) | −/− | None | None | 857 | Alive | N | N/A | Stable mixed chimerism (full donor in PBMC and B-cell fractions, mixed in T-cell and granulocyte fractions) | Well. Viable sperm on testing, suitable for ICSI |
| 28 | X-linked CGD | None | None | +/− | None | DLI ×4 for mixed chimerism | 3516 | Alive | N | N/A | Stable mixed chimerism (mixed in all lineages) | Well. Normal full blood count. Father of 2 children |
| 29 | X-linked CGD | None | None | −/− | Rotavirus diarrhea | Depression | 697 | Alive | N | N/A | Stable mixed chimerism (full donor in PBMC and B-cell fractions, mixed in T-cell and granulocyte fractions) | Well |
Full donor indicates ≥97% donor DNA; mixed chimerism indicates ≥50% <97% donor DNA.
BK, BK virus; CT, computed tomography; DLI, donor lymphocyte infusion; EBV, Epstein-Barr virus; FDG, fluorodeoxyglucose; F/U, follow-up; GVHD, graft-versus-host disease; ICSI, intracytoplasmic sperm injection; ITP, idiopathic thrombocytopenic purpura; MC, mixed chimerism; N, no; N/A, not applicable; PET, positron emission tomography; PTLD, posttransplant lymphoproliferative disease; TRM, transplant-related mortality; VIN, vaginal intraepithelial neoplasia; Y, yes. Other abbreviations are explained in Table 1.
*
See Figure 4 for lineage-specific chimerism.