Table 1 (abstract P2122). Summary of family members: age, sex, results of exome sequencing (mutations) and functional assays
From: 10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)
Patient | Age | Sex | Mutation | State of mutations | Interferon Signature | Lymphocyte pTBK1 LPS (NS) | Monocyte pTBK1 LPS (NS) |
|---|---|---|---|---|---|---|---|
1 | 2 | F | ZC3H12D:c.C564A MB21D1:c.A948G | Het | Intermediate | 3.8(3.9) | 1.7(1) |
2 | 42 | M | ZC3H12D:c.C564A MB21D1:c.A948G | Het | Intermediate | 3.7(4.7) | 3.2(2.7) |
3 | 40 | M | ZC3H12D:c.C564A MB21D1:c.A948G | Het | Intermediate | - | - |
Twin brother pt1 | 2 | M | ZC3H12D:c.C564A | Het | Intermediate | 4.2(3.4) | 1.2(0.9) |
Mother pt1 | 37 | F | - | - | Negative | 6.7(3.7) | 4(1.4) |