Table 3.
Clinical data and Btk mutations of 16 patients reported in the world literature with atypical XLA.
| Serum Ig level (mg/dL)* | Btk Mutation | ||||||
| Patient no. | Age (yrs)ϕ | IgG | IgA | IgM | Nucleotide Change | Domain | Reference |
| P1 | 51 | 401 | <7 | 15 | 567C>A | TH | 12 |
| P2 | 26 | 169 | 8 | 7 | UD | UD | |
| P3 | 25 | 773 | UD | 1 | UD | UD | 4 |
| P4 | 34 | 420 | UD | UD | UD | UD | |
| P5 | 27 | 635 | <5 | 11 | Glu605stop | SH1 | 9 |
| P6 | 40 | <20 | <20 | 22 | G>Aψ | NA | 5 |
| P7 | 39 | 220 | UD | UD | W563L | SH1 | |
| P8 | 60 | 429 | 7 | 14 | 994C>T | SH2 | 6 |
| P9 | 27 | 132 | 7 | 17 | 230C>T | PH | 10 |
| P10 | 21 | 35 | 8 | 29 | 1630A>G | SH1 | 8 |
| P11 | 32 | 462 | <8 | <7 | 227T>C | PH | |
| P12 | 32 | 702 | 185 | <25 | 1706G>A | SH1 | |
| P13 | 28 | 454 | 95 | 38 | UD | UD | 11 |
| P14 | 27 | 346 | 16 | 8 | 1705C>T | SH1 | |
| P15 | 24 | NA | 0 | 1 | 1942-1943del AG | SH1 | |
| P16 | 31 | 527 | 8 | 30 | UD | UD | |
UD, Undetermined; NA, Not applicable
* Serum immunoglobulins reported at the age of diagnosis
ϕ Age at diagnosis
ψ Splice site mutation at the 3' end of intron 13: IVS 13 -1 G>A