Percentage of patients with elevated ALPS markers
| Patients . | Median age, y . | No. of marker(s) with increased values . | |||
|---|---|---|---|---|---|
| 3 . | 2 . | 1 . | 0 . | ||
| ALPS-0, n=3 | 0.08 (0.04 to 5) | 100 | 0 | 0 | 0 |
| ALPS-Ia, n=51 | 13 (0.7 to 46) | 86* | 14† | 0 | 0 |
| ALPS-Im, n=10 | 6.5 (1 to 18) | 100‡ | 0 | 0 | 0 |
| ALPS-like, n=6 | 6 (1 to 16) | 0 | 33 | 59 | 8 |
| MPRs, n=24 | 31.5 (6 to 56) | 0 | 16.5 | 46 | 37.5 |
| HRs, n=41 | 32 (1 to 55) | 0 | 2.5 | 17 | 80.5 |
| Patients . | Median age, y . | No. of marker(s) with increased values . | |||
|---|---|---|---|---|---|
| 3 . | 2 . | 1 . | 0 . | ||
| ALPS-0, n=3 | 0.08 (0.04 to 5) | 100 | 0 | 0 | 0 |
| ALPS-Ia, n=51 | 13 (0.7 to 46) | 86* | 14† | 0 | 0 |
| ALPS-Im, n=10 | 6.5 (1 to 18) | 100‡ | 0 | 0 | 0 |
| ALPS-like, n=6 | 6 (1 to 16) | 0 | 33 | 59 | 8 |
| MPRs, n=24 | 31.5 (6 to 56) | 0 | 16.5 | 46 | 37.5 |
| HRs, n=41 | 32 (1 to 55) | 0 | 2.5 | 17 | 80.5 |
The percentage of patients exhibiting an elevation in 0, 1, 2, or 3 ALPS markers is described here: DNT cells (N ≤ 2% of TCRαβ+ T cells), plasma FAS-L (N ≤ 0.2 ng/mL), and plasma IL-10 (N ≤ 20 pg/mL) were calculated for the cohort described in Figure 1.
ALPS-0 indicates homozygous FAS mutation; ALPS-Ia, heterozygote germline fas mutation; ALPS-Im, heterozygote somatic mosaic FAS mutation; ALPS-like, ALPS phenotype with no identifiable mutation; MPRs, mutation-positive relatives; and HRs, healthy relatives.
Eight treated, 41 untreated, and 10 patients with unknown medication at time of analysis.
Two treated and 4 untreated patients. All have increased FAS-L concentration.
All patients are free of treatment at time of analysis.