Genotype/phenotype correlation and penetrance
| . | ALPS-FAS ECD/TMD mutations . | ALPS-FAS ICD mutations . | ALPS-sFAS . | Combined ALPS-FAS/sFAS . |
|---|---|---|---|---|
| No. (index cases/symptomatic relatives) | 20 (13/7) | 59 (39/20) | 11 (11/0) | 8 (6/2) |
| Median age at last follow-up, y (range) | 20.6 (1-47) | 24 (1.5-77) | 17 (3-30) | 20.9 (12-47) |
| Median age at onset, y (range) | 6 (0.2-29) | 3 (0-30) | 2 (0.1-5) | 11 (0.2-27) |
| Sex ratio in symptomatic individuals, % (M/F) | 2 (14/6) | 2 (39/20) | 1.8 (7/4) | 3 (6/2) |
| Sex ratio in asymptomatic carriers, % (M/F) | 0.6 (7/11) | 0.8 (13/17) | ||
| Lymphoproliferation, n (%) | 20 (100) | 58 (98) | 11 (100) | 8 (100) |
| Autoimmunity, n (%) | 12 (60) | 35 (60) | 5 (45) | 5 (62.5) |
| Lymphoma, n (%) | 1 (5) | 4 (7) | 1 (9) | 0 (0) |
| Significant ALPS related morbidity, n (%)* | 12 (60) | 34 (57) | 7 (63) | 6 (75) |
| Treatment, n (%) | 12 (60) | 40 (68) | 8 (72) | 7 (90) |
| Remission, n (%)† | 8 (40) | 20 (34) | 3 (27) | 4 (50) |
| Penetrance in relatives (%) | 7/25 (28) | 20/50 (40) | ||
| Penetrance in all carriers (%) | 20/38 (52) | 50/79 (63) |
| . | ALPS-FAS ECD/TMD mutations . | ALPS-FAS ICD mutations . | ALPS-sFAS . | Combined ALPS-FAS/sFAS . |
|---|---|---|---|---|
| No. (index cases/symptomatic relatives) | 20 (13/7) | 59 (39/20) | 11 (11/0) | 8 (6/2) |
| Median age at last follow-up, y (range) | 20.6 (1-47) | 24 (1.5-77) | 17 (3-30) | 20.9 (12-47) |
| Median age at onset, y (range) | 6 (0.2-29) | 3 (0-30) | 2 (0.1-5) | 11 (0.2-27) |
| Sex ratio in symptomatic individuals, % (M/F) | 2 (14/6) | 2 (39/20) | 1.8 (7/4) | 3 (6/2) |
| Sex ratio in asymptomatic carriers, % (M/F) | 0.6 (7/11) | 0.8 (13/17) | ||
| Lymphoproliferation, n (%) | 20 (100) | 58 (98) | 11 (100) | 8 (100) |
| Autoimmunity, n (%) | 12 (60) | 35 (60) | 5 (45) | 5 (62.5) |
| Lymphoma, n (%) | 1 (5) | 4 (7) | 1 (9) | 0 (0) |
| Significant ALPS related morbidity, n (%)* | 12 (60) | 34 (57) | 7 (63) | 6 (75) |
| Treatment, n (%) | 12 (60) | 40 (68) | 8 (72) | 7 (90) |
| Remission, n (%)† | 8 (40) | 20 (34) | 3 (27) | 4 (50) |
| Penetrance in relatives (%) | 7/25 (28) | 20/50 (40) | ||
| Penetrance in all carriers (%) | 20/38 (52) | 50/79 (63) |
Patients undergoing splenectomy, having autoimmunity requiring treatment, or developing lymphoma.
Absence of lymphoproliferation and autoimmunity without treatment at last follow-up for > 1 year. ALPS-FAS and ALPS-sFAS: ALPS patients with germline and somatic heterozygous TNFRSF6 mutations, respectively.