Percentages of peripheral B cells and Btkmutations in XLA patients
| Patient no. . | Age at analysis, y (except where indicated) . | Age at diagnosis, mo or y . | Peripheral B cells, % . | Btkmutation . | |
|---|---|---|---|---|---|
| Nucleotide change35 . | Consequence . | ||||
| P1 | 4 mo | 4 mo | 0.10 | deletion of G787 | FS (stop) |
| P2 | 1 | 5 mo | 0.60 | deletion of G1089 and T1090 | FS (stop) |
| P3 | 2 | 1 y | 0.14 | 1 nt insertion between A612 and A613 | FS (stop) |
| P4 | 4 | 1 y | 0.10 | intron 5 −2A → G | exon 6 skip |
| P5 | 4 | 3 y | <0.1 | 5 nt deletion/13 nt insertion (exon 18) | exon 16-18 skip |
| P6 | 4 | 6 mo | <0.1 | 342 nt deletion between G1699 and G2040 | exon 16-18 skip |
| P7 | 5 | 3 y | 0.50 | deletion of G1089 and T1090 | FS (skip) |
| P8 | 6 | 10 mo | 0.10 | 60 nt insertion between G1764 and T1765 | Stop* |
| P9 | 10 | 3 y | 0.25 | 60 nt insertion between G1764 and T1765 | Stop* |
| P10 | 12 | 7 y | 0.30 | G324 → T | Val64 → Phe |
| P11 | 18 | 5 y | <0.1 | 1 nt insertion between G1176 and A1177 | FS (stop) |
| P12 | 21 | 1 y | <0.1 | deletion of G787 | FS (stop) |
| P13 | 30 | 18 y | <0.1 | A1924 → G | Tyr598 → Asp |
| Patient no. . | Age at analysis, y (except where indicated) . | Age at diagnosis, mo or y . | Peripheral B cells, % . | Btkmutation . | |
|---|---|---|---|---|---|
| Nucleotide change35 . | Consequence . | ||||
| P1 | 4 mo | 4 mo | 0.10 | deletion of G787 | FS (stop) |
| P2 | 1 | 5 mo | 0.60 | deletion of G1089 and T1090 | FS (stop) |
| P3 | 2 | 1 y | 0.14 | 1 nt insertion between A612 and A613 | FS (stop) |
| P4 | 4 | 1 y | 0.10 | intron 5 −2A → G | exon 6 skip |
| P5 | 4 | 3 y | <0.1 | 5 nt deletion/13 nt insertion (exon 18) | exon 16-18 skip |
| P6 | 4 | 6 mo | <0.1 | 342 nt deletion between G1699 and G2040 | exon 16-18 skip |
| P7 | 5 | 3 y | 0.50 | deletion of G1089 and T1090 | FS (skip) |
| P8 | 6 | 10 mo | 0.10 | 60 nt insertion between G1764 and T1765 | Stop* |
| P9 | 10 | 3 y | 0.25 | 60 nt insertion between G1764 and T1765 | Stop* |
| P10 | 12 | 7 y | 0.30 | G324 → T | Val64 → Phe |
| P11 | 18 | 5 y | <0.1 | 1 nt insertion between G1176 and A1177 | FS (stop) |
| P12 | 21 | 1 y | <0.1 | deletion of G787 | FS (stop) |
| P13 | 30 | 18 y | <0.1 | A1924 → G | Tyr598 → Asp |
Of the patients, P1 was a nephew of P12; P2 and P7 were brothers; and P8 and P9 were cousins. The percentages of peripheral B cells were evaluated by coexpression of CD19 and CD20. Nt indicates nucleotides; FS (stop), frame shift resulting in secondary termination.
Indicates that a stop codon appeared in the intron sequence.