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. 2022 Nov 2;13:1011646. doi: 10.3389/fimmu.2022.1011646

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C, p.S171R Performed, Unpublished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F 46 Unpublished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C, p.S171R Performed, Unpublished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M 20 Unpublished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T; p.P136L Performed, Unpublished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P11 F7 Unaffected Czech Republic c.402_415del; p.M134IfsTer15 Performed, unpublished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 (32)reduced M 70 Unpublished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G, p.Y139C Performed, unpublished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F 33 Unpublished