Table 1.
Patient information.
| Batch 1 | Batch 2 | Batch 3 | |
|---|---|---|---|
| IRAK4−/− |
P11, 9 male, age
12yo; Mutation: 1188+520A>G/1189- 1G>T; Splice mutation;
on IVIG P2 1, 9 male, age 12yo; Mutation: E402X/E402X; Nonsense mutation; on Cotrimoxazole P3 1, 9 male, age 18yo; Mutation: Q293X/BAC210N13del; Nonsense mutation/large deletion; on Cotrimoxazole P4 9 female, age 14yo; Mutation:Q293X/Q293X; Nonsense mutation; on Azythromycin and IVIG |
|
|
| MYD88−/− |
|
|
|
| Controls | 14 (6 for bacterial stimulation) | 5 | 8 (2 young children) |
| Stimulations | Toll-IL1R (PAM3, PAM2, PolyIC, Flagellin, LPS, R848, CpGs, IL1R, IL18R) + TNFa + PMAiono + 4 HK bacteria1 for IRAK-4P3, P4 and MyD88 P3, P4. | Toll-R (PAM2, LPS) + TNFa + PMAiono + 4HK bacteria1 all patients | Toll-R (PAM2, PAM3, PolyIC, R848) + PMAiono + 4HK bacteria1 + BCG + HSV + HK. CA all patients |
siblings. In blue, patients reanalyzed in different batches to include new pathogen stimulations. IVIG: intravenous immunoglobulin.
4 HK bacteria include 3 strains of heat killed S. pneumoniae and S. aureus.