Table 1.
Clinical and immunological data of the XLA patients.
| Ig levels at diagnosis (mg/dL) | Mutations | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient | Age (years) | Age at onset (years)a | Age at diagnosis (years)b | Family historyc | IgG | IgM | IgA | CD19+ (%) | BTK expression | Nucleotide | Protein | Protein Domain |
| P1 | 12 | 1 | 4 | − | N/A | N/A | N/A | 1 (12−22) | 7.7% | c.1888A > T | p.M630L | Kinase |
| P2 | 13 | 1 | 6 | + | 41(550−1200) | <12(40−95) | 48 (60–170) | 0 (12−22) | 6% | IVS9 + 1 G > C | Skipping of exon 9 | SH3 & SH2 |
| P3 | 18 | 2 | 7 | − | 91.1 (550−1200) | 11.3 (40−95) | UD (60−170) | 0 (12−22) | 0.04% | g.34430_34447 delCAAAGTCATGATgtgagt | p.A446_N451 ins(28 amino acids) | Kinase |
N/A, not available. UD, undetectable. aAge at the which an individual acquires, develops, or first experiences a condition or symptoms of a disease. bAge at the start of intravenous immunoglobulin replacement. c“ + ”, indicates that family members [boy (s)] died at a young age because of infection. dNormal expression is >94%.