M/F | Age at onset (years) | ALPS/ALPS-like | Symptoms | Genetic mutation | Defective lymphocyte apoptosis | sFAS-L (>200 pg/ml) | IL-10 (>20 pg/ml) | IL-18 (>500 pg/ml) | Vit B12 (n.r. 191 - 663 pg/ml) | IgG (mg/dl) | Family history | DNT (>1.5% of total lymph) | B220+ DNT (>60%) | CD3+CD25+ / CD3+HLADR+ ratio (<1%) | CD27+ (<15%) | |
P1 | F | 12 | ALPS-like | + Autoimmunity |
- CASP10 - Leu522lle - CASP8 - Met1Thr (Homozygosis) |
No | 0 | 4 | 365 | 482 | 1407 | Neg | 1.7 | 22 | 0.3 | 84.3 |
P2 | M | 11 | ALPS-like | Trilinear cytopenia + Autoimmunity + LP |
- CASP10 - Leu522lle - TNFRSF13C – His159Tyr - TNFRSF13C – Pro21Arg |
No | 0 | 3 | 660 | 356 | 820 | Neg | 4 | 70.6 | 0.1 | 4.5 |
P3 | F | 9 | ALPS-like | monolinear cytopenia + LP | - CASP10 – Val410lle | Yes (100%) | 0 | 1,1 | 550 | 1014 | 1076 | Neg | 1.2 | 46 | 1.3 | 0.3 |
P4 | F | 5 | ALPS P | monolinear cytopenia + LP | - CASP10 – Tyr446Cys | No | 0 | <1 | 1050 | 466 | 1094 | Neg | 2.3 | 92 | 0.2 | 15.6 |
P5 | M | 3 | No | monolinear cytopenia + RRI + Recurrent skin abscesse | - CASP10 – Val410lle | ND | 0 | <1 | 75 | 699 | 1154 | Neg | 1.1 | 61.7 | 0.9 | 12.4 |
P6 | M | 2 | ALPS | Asthenia + LP + RI + Arthromyalgia | - CASP10 – I406L | No | 0 | <1 | 500 | 583 | 1062 | Neg | 3.9 | 57 | 0.7 | 23.6 |