Table 1.
Patient characteristics.
| ID | Family | Status | Country | CTLA4 mutation | Transendocytosis | Gender | Age at sample collection (years) | Patient code in case of previouspublication | 
|---|---|---|---|---|---|---|---|---|
| P1 | F1 | Unaffected | Germany | c.105C>A; p.C35* | Schubert et al. (1) reduced | F | 88 | A.I.2 (1) | 
| P2 | F1 | Unaffected | Germany | c.105C>A; p.C35* | Schubert et al. (1) reduced | M | 50 | A.II.10 (1) | 
| P3 | F1 | Unaffected | Germany | c.105C>A; p.C35* | Schubert et al. (1) reduced | F | 61 | A.II.3 (1) | 
| P4 | F2 | Affected (Mild) | Germany | c.109+1G>T | Schubert et al. (1) reduced | F | 60 | B.II.1 (1) | 
| P5 | F2 | Unaffected | Germany | c.109+1G>T | Schubert et al. (1) reduced | F | 17 | B.III.3 (1) | 
| P6 | F3 | Unaffected | Greece | c.208C>T; p.R70W | Schubert et al. (1) reduced | F | 14 | C.II.4 (1) | 
| P7 | F4 | Affected (Mild) | Germany | c.511A>C, p.S171R | Performed, Unpublished reduced | F | 46 | Unpublished | 
| P8 | F4 | Affected | Germany | c.511A>C, p.S171R | Performed, Unpublished reduced | M | 20 | Unpublished | 
| P9 | F5 | Affected | Germany | c.407C>T; p.P136L | Performed, Unpublished reduced | F | 52 | H.I.2 (3) | 
| P10 | F6 | Unaffected | Germany | c.373G>A; p.G125R | Not performed | F | 49 | J.1.2 (3) | 
| P11 | F7 | Unaffected | Czech Republic | c.402_415del; p.M134IfsTer15 | Performed, unpublished reduced | M | 57 | KK.I.1 (3) | 
| P12 | F8 | Affected | Germany | c.165_190 dupp. p.G64AfsTer17 | Rojas-Restrepo et al. (32)reduced | M | 70 | Unpublished | 
| P13 | F9 | Affected (Mild) | Germany | c.416A>G, p.Y139C | Performed, unpublished reduced | F | 33 | Unpublished | 
*refers to a stop codon/termination as of http://varnomen.hgvs.org/recommendations/protein/variant/frameshift/.