Table 2.
Donor chimerism and disease response according to diagnosis
| Diagnosis | Percent Donor | Response | Follow-up (yrs) | |
|---|---|---|---|---|
| CD3+ | CD33+ | |||
| Immune Deficiency Syndromes | ||||
| IPEX* | 9 | 0 | Normal FOXP3 expression | 3.7 |
| IPEX* | 100 | 100 | Normal FOXP3 expression | 3.0 |
| IPEX | 98 | 100 | Normal FOXP3 expression | 2.3 |
| IPEX | >95 | 100 | Normal FOXP3 expression | 2.6 |
| IPEX | 100 | 93 | Normal FOXP3 expression | 0.5 |
| IPEX | 37 | 3 | Normal FOXP3 expression | 1.6 |
| CGD* | 100 | 100 | Normal neutrophil oxidative burst | 4.0 |
| CGD | 100 | 100 | Normal neutrophil oxidative burst | 2.4 |
| CGD | 100 | 100 | Normal neutrophil oxidative burst | 2.2 |
| CGD | 100 | 100 | Normal neutrophil oxidative burst | 2.0 |
| CGD | 90 | 97 | Normal neutrophil oxidative burst | 2.0 |
| Other PID | 100 | 100 | Clinical remission of EBV | 2.2 |
| Other PID | 100 | 100 | Clinical remission, off IVIG | 2.0 |
| Hemophagocytic Lymphohistiocytosis | ||||
| HLH* | 36 | 3 | Recurrent disease | 1.4** |
| HLH | 80 | 70 | Recurrent disease | 0.6† |
| HLH | 100 | 100 | Normal NK function Clinical remission |
2.3 |
| HLH | 100 | 100 | Normal NK function Clinical remission |
1.7 |
| HLH | 99 | 100 | Normal NK function Clinical remission |
1.4 |
| HLH | 100 | 100 | Clinical remission | 0.4† |
| Bone Marrow Failure Syndromes | ||||
| DBA | 100 | 100 | Normal hemoglobin, non-transfused | 2.1 |
| DBA | 58 | 68 | Normal hemoglobin, non-transfused | 1.6 |
| DBA | 94 | 100 | Normal hemoglobin, non-transfused | 1.0 |
| SDS* | 100 | 100 | Normal blood count Normal bone marrow cellularity |
2.6 |
| SDS | 100 | 100 | Normal blood count Normal bone marrow cellularity |
2.0 |
| SDS | 100 | 100 | Normal blood count Resolution of cytogenetic abnormality in the marrow |
1.0 |
| Red Cell Disorders | ||||
| SCD* | 75 | 100 | HbS <5% | 0.3** |
| SCD* | 100 | 100 | HbS <5% Resolution of symptoms |
3.0 |
| SCD | 100 | 100 | HbS 30% (donor with HbS trait) Resolution of symptoms |
1.4 |
| SCD | 55 | >95 | HbS 40% (donor with HbS trait) Resolution of symptoms |
1.0 |
| PNH* | 100 | 100 | Normal blood counts Normal GPI expression |
3.4 |
| PNH* | 100 | 100 | Normal blood counts Normal GPI expression |
0.4† |
*
No rATG
**
Last evaluation point before a second HCT.
†
Died
Abbreviations: AIHA, autoimmune hemolytic anemia; CGD, chronic granulomatous disease; DBA, Diamond-Blackfan anemia; EBV, Epstein Barr Virus; HbS, hemoglobin S; HLH, hemophagocytic lymphohistiocytosis; IPEX, immune dysregulation polyendocrinopathy enteropathy X-linked syndrome; IVIG, intravenous immune globulin; NK, Natural Killer cell; PID, primary immunodeficiency disorder; PNH, paroxysmal nocturnal hemoglobinuria; rATG, rabbit anti-thymocyte globulin (thymoglobulin); SCA, sickle cell disease; SDS, Shwachman-Diamond syndrome.