Clinical and laboratory features of 20 healthy relatives without Fas defects
| Family3-150 . | Race . | Gender . | Age (y) . | LN size (1 to 4+)3-151 . | Splenomegaly/ splenectomy . | α/β DNTCs (%) (no./μL3)3-152 . | Serum IgG (mg/dL)3-153 . | Serum IL-10 (pg/ml) . | Autoantibodies . | Autoimmunity . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | W | M | 30 | 1+ | N/N | NT′ | 1370 | 0 | − | ND |
| 2 | W | F | 69 | 1+ | N/N | 2 (0.1) | 819 | 3 | − | ND |
| 2 | W | F | 44 | 1+ | N/N | NT | NT | 9 | NT | ND |
| 2 | W | M | 46 | 1+ | N/N | 5 (0.2) | 1060 | 0 | + | ND |
| 2 | W | F | 13 | 1+ | N/N | 16 (0.8) | 927 | 0 | + | ND |
| 2 | W | F | 43 | 1+ | N/N | NT | NT | 4 | NT | ND |
| 3 | W | M | 14 | 1+ | N/N | 14 (0.7) | 928 | 0 | − | ND |
| 3 | W | F | 65 | 1+ | N/N | 4 (0.2) | 949 | 0 | − | ND |
| 3 | W | F | 35 | 1+ | N/N | 19 (0.6) | 708 | 4 | − | ND |
| 4 | W | M | 45 | 1+ | N/N | 7 (0.8) | NT | 29 | NT | ND |
| 4 | W | M | 36 | 1+ | N/N | 9 (0.6) | 950 | 3 | + | ND |
| 4 | W | M | 12 | 1+ | N/N | NT | 954 | 7 | − | ND |
| 4 | W | F | 7 | 1+ | N/N | NT | 818 | 6 | + | ND |
| 4 | W | M | 9 | 1+ | N/N | NT | 887 | 0 | − | ND |
| 5 | W | M | 38 | 1+ | N/N | 10 (0.7) | 708 | 14 | − | ND |
| 6 | B | M | 36 | 1+ | N/N | 4 (0.2) | 990 | 15 | − | ND |
| 6 | B | F | 35 | 1+ | N/N | 24 (0.7) | 1450 | 5 | + | ND |
| 11 | B | F | 37 | 1+ | N/N | 5 (0.4) | 1110 | 5 | + | ND |
| 14 | W | F | 36 | 1+ | N/N | 9 (0.5) | 886 | 5 | − | ND |
| 27 | W | F | 42 | 1+ | N/N | 6 (0.3) | 824 | 9 | − | ND |
| Family3-150 . | Race . | Gender . | Age (y) . | LN size (1 to 4+)3-151 . | Splenomegaly/ splenectomy . | α/β DNTCs (%) (no./μL3)3-152 . | Serum IgG (mg/dL)3-153 . | Serum IL-10 (pg/ml) . | Autoantibodies . | Autoimmunity . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | W | M | 30 | 1+ | N/N | NT′ | 1370 | 0 | − | ND |
| 2 | W | F | 69 | 1+ | N/N | 2 (0.1) | 819 | 3 | − | ND |
| 2 | W | F | 44 | 1+ | N/N | NT | NT | 9 | NT | ND |
| 2 | W | M | 46 | 1+ | N/N | 5 (0.2) | 1060 | 0 | + | ND |
| 2 | W | F | 13 | 1+ | N/N | 16 (0.8) | 927 | 0 | + | ND |
| 2 | W | F | 43 | 1+ | N/N | NT | NT | 4 | NT | ND |
| 3 | W | M | 14 | 1+ | N/N | 14 (0.7) | 928 | 0 | − | ND |
| 3 | W | F | 65 | 1+ | N/N | 4 (0.2) | 949 | 0 | − | ND |
| 3 | W | F | 35 | 1+ | N/N | 19 (0.6) | 708 | 4 | − | ND |
| 4 | W | M | 45 | 1+ | N/N | 7 (0.8) | NT | 29 | NT | ND |
| 4 | W | M | 36 | 1+ | N/N | 9 (0.6) | 950 | 3 | + | ND |
| 4 | W | M | 12 | 1+ | N/N | NT | 954 | 7 | − | ND |
| 4 | W | F | 7 | 1+ | N/N | NT | 818 | 6 | + | ND |
| 4 | W | M | 9 | 1+ | N/N | NT | 887 | 0 | − | ND |
| 5 | W | M | 38 | 1+ | N/N | 10 (0.7) | 708 | 14 | − | ND |
| 6 | B | M | 36 | 1+ | N/N | 4 (0.2) | 990 | 15 | − | ND |
| 6 | B | F | 35 | 1+ | N/N | 24 (0.7) | 1450 | 5 | + | ND |
| 11 | B | F | 37 | 1+ | N/N | 5 (0.4) | 1110 | 5 | + | ND |
| 14 | W | F | 36 | 1+ | N/N | 9 (0.5) | 886 | 5 | − | ND |
| 27 | W | F | 42 | 1+ | N/N | 6 (0.3) | 824 | 9 | − | ND |
For abbreviations, see Table 1.
The number refers to the family in the NIH ALPS research cohort from whom samples were available for this study.
Lymph node sizes as defined in reference 2.
Normal range of 0 to 18 cells/μL3, or less than 1% of all lymphocytes.
Normal range of 523 to 1482 μg/dL.