From: Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants
Patient | vWF reduction | LAC | INR (n.v. 0.9–1.2) | aPTT (n.v. 0.85 – 1.25) | Coagulation factors |
---|---|---|---|---|---|
III.1 | – | Normal | Normal | n.d | |
III.2 | + | – | 1.22 | 1.50 (1.11 after correction with normal plasma) | Slight reduction in II, V, X, XI, XII |
III.3 pre HSCT | – | + | 1.54 | 1.48 | n.d |
III.3 post-HSCT | – | – | 1.1 | 0.96 | n.d |
II.1 | – | – | n.d | n.d | n.d |
II.2 | + | – | n.d | n.d | n.d |
II.3 | + | + | n.d | n.d | Slight reduction in fXI |
I.1 | + | + | n.d | n.d | n.d |
I.2 | – | – | n.d | n.d | n.d |
I.3 | + | + | n.d | n.d | n.d |