Clinical characteristics of somatic ALPS patients
| Patient . | Original ALPS classification . | Sex . | Age at presentation . | LN size* . | Age at splenectomy, y . | Cytopenias† . | Apoptosis‡ . |
|---|---|---|---|---|---|---|---|
| 43 | Phenotype | M | 3 mo | 3 | 6 | A,T,N | 77 |
| 84 | Phenotype | M | 6 mo | 2 | — | A,N | 61 |
| 135 | Phenotype | F | 1 y | 4 | — | A,T,N | 55 |
| 228 | Phenotype | F | 6 mo | 3 | — | A,AH,N | 102 |
| 235 | Phenotype | M | 48 y | 2 | — | A | 58 |
| 241 | Phenotype | F | 43 y | 4 | — | N | 53 |
| 108 | Type III | M | 1 y | 4 | 5 | A,T,N | 18 |
| 164 | Type III | M | 17 y | 3 | — | N | 39 |
| 256 | Type III | M | 11 y | 4 | — | HSP-AG | 49 |
| 262 | Type III | M | 12 y | 4 | — | A | 23 |
| 263 | Type III | M | 1 y | 3 | 6 (partial) | A,T,N | 18 |
| 276 | Type III | M | 10 y | 4 | — | A | 41 |
| Patient . | Original ALPS classification . | Sex . | Age at presentation . | LN size* . | Age at splenectomy, y . | Cytopenias† . | Apoptosis‡ . |
|---|---|---|---|---|---|---|---|
| 43 | Phenotype | M | 3 mo | 3 | 6 | A,T,N | 77 |
| 84 | Phenotype | M | 6 mo | 2 | — | A,N | 61 |
| 135 | Phenotype | F | 1 y | 4 | — | A,T,N | 55 |
| 228 | Phenotype | F | 6 mo | 3 | — | A,AH,N | 102 |
| 235 | Phenotype | M | 48 y | 2 | — | A | 58 |
| 241 | Phenotype | F | 43 y | 4 | — | N | 53 |
| 108 | Type III | M | 1 y | 4 | 5 | A,T,N | 18 |
| 164 | Type III | M | 17 y | 3 | — | N | 39 |
| 256 | Type III | M | 11 y | 4 | — | HSP-AG | 49 |
| 262 | Type III | M | 12 y | 4 | — | A | 23 |
| 263 | Type III | M | 1 y | 3 | 6 (partial) | A,T,N | 18 |
| 276 | Type III | M | 10 y | 4 | — | A | 41 |
— indicates not applicable.
LN size grading: 1 = presence of few shotty nodes; 2 = presence of multiple 1- to 2-cm nodes; 3 = more than 2-cm nodes; and 4 = visible LN or more than 4 cm by CT.
A = anemia; T = thrombocytopenia; AH = autoimmune hepatitis; N = neutropenia; HSP-AG = Henoch-Schonlein Purpura-acute glomerulonephritis.
Percent of normal control; less than 50% is considered defective.