Summary of clinical presentations and laboratory findings of interest among patients with XIAP deficiency reported to date
| . | Rigaud et al1 . | Zhao et al6 . | Marsh et al (current study) . |
|---|---|---|---|
| No. of patients | 12 | 1 | 10 |
| Patients with HLH | 11 (92%) | 1 | 9 (90%) |
| Median patient age at presentation, y (range) | 3 (0.5-20) | 1.7 | 0.3 (birth to 8) |
| Patients with recurrent HLH or HLH-like illness | 6 (50%) | 1 | 6 (60%) |
| Patients with Epstein-Barr virus infection-associated HLH | 8 (67%) | 1 | 3 (30%) |
| Patients with hypogammaglobulinema | 4 (33%) | 0 | 2 (20%) |
| Patients with lymphoma | 0 | 0 | 0 |
| NK cell function | Normal | Not Tested | Normal |
| Peripheral blood iNKT cell populations | Decreased | Not Tested | Normal |
| T-cell Fas-mediated apoptosis | Increased | Not Tested | Normal |
| T-cell restimulation-induced cell death | Increased | Not Tested | Increased |
| . | Rigaud et al1 . | Zhao et al6 . | Marsh et al (current study) . |
|---|---|---|---|
| No. of patients | 12 | 1 | 10 |
| Patients with HLH | 11 (92%) | 1 | 9 (90%) |
| Median patient age at presentation, y (range) | 3 (0.5-20) | 1.7 | 0.3 (birth to 8) |
| Patients with recurrent HLH or HLH-like illness | 6 (50%) | 1 | 6 (60%) |
| Patients with Epstein-Barr virus infection-associated HLH | 8 (67%) | 1 | 3 (30%) |
| Patients with hypogammaglobulinema | 4 (33%) | 0 | 2 (20%) |
| Patients with lymphoma | 0 | 0 | 0 |
| NK cell function | Normal | Not Tested | Normal |
| Peripheral blood iNKT cell populations | Decreased | Not Tested | Normal |
| T-cell Fas-mediated apoptosis | Increased | Not Tested | Normal |
| T-cell restimulation-induced cell death | Increased | Not Tested | Increased |
HLH indicates hemophagocytic lymphohistiocytosis; and NK, natural killer.