Table 1 (abstract P171). Mutation in relation to disease activity and dosage
From: Proceedings of the 28th European Paediatric Rheumatology Congress (PReS 2022)
Patients with pathogenic or likely pathogenic mutation in relation to disease activity and dosage, current age in years. | Mutation | Disease activity (absent, mild/moderate, severe) | Dosing (normalized to mg every 4 weeks) |
|---|---|---|---|
Patient 1, 16 years | T50M | absent | 150 |
Patient 2, 46 years | T50M | absent | 150 |
Patient 3, 5 years | C70R | Absent | 75 (4 mg/kg) |
Patient 4, 10 years | R92Q | mild/moderate | 150 (4 mg/kg) |
Patient 5, 36 years | R92Q | mild/moderate | 150 |
Patient 6, 16 years | R92Q | n.s.* | n.s. |
Patient 7, 41 years | R92Q | n.s. | 150 |
Patient 8, 32 years | C55R | severe | 150 |
Patient 9, 33 years | I170N | absent | 150 |
Patient 10, 39 years | I170N | absent | 150 |
Patient 11, 45 years | N116S | absent | 150 |
Patient 12, 35 years | Y20C+Y20C | absent | 150 |
Patient 13, 4 years | S321N | mild/moderate | 105 (7.2 mg/kg) |