Table 1.
Bruton’s tyrosine kinase mutations of the nine XLA patients.
| Patient | Age | Exon/Intron | cDNA change involved | Amino acid change | Protein domain |
|---|---|---|---|---|---|
| P001a | 26 | E2 | c.41C > A | S14Y | PH domain |
| P001b | 27 | E2 | c.41C > A | S14Y | PH domain |
| P002 | 23 | E11 | c.942A > G | G313fsX318 | SH2 domain |
| P003 | 22 | E14 | c.1278delC | D426fsX431 | PK domain |
| P004 | 32 | E2 | c.3G > T | M1I | (Start codon) |
| P005 | 28 | E2 | c.3G > T | M1I | (Start codon) |
| P006 | 30 | E10 | c.885_887delA | K296fsX330 | SH2 domain |
| P007 | 25 | E2 | c.3G > T | M1I | (Start codon) |
| P008 | 24 | I15 | g.IVS15-2A > T, c.1567-1631del | A523fsX527 | PK domain |
PH, pleckstrin homology; SH2, Src homology 2; PK, protein kinase; XLA, X-linked agammaglobulinemia. All nine patients received oral poliovirus vaccine and had no history of acute flaccid paralysis and no excretion of vaccine-derived poliovirus. P001a and P001b were from the same kindred.