Characteristics of patients with X-linked agammaglobulinemia
Patient no. . | Age, y . | IgG, g/L . | IgA, g/L . | IgM, g/L . | B cells/ mm3 (%) . | T cells/ mm3 (%) . | btk mutation . |
---|---|---|---|---|---|---|---|
1 | 30 | 1.9 | < .06 | .19 | < 10 (0.8) | 1712 (75) | 1114C > T |
2 | 16 | 1.61 | < .06 | .10 | < 10 (0.6) | 2021 (94) | 188A > T |
3* | 9 | 2.62 | .34 | .24 | 14 (0.7) | 2425 (90) | 994C > T |
4* | 11 | 3.55 | .29 | .20 | 17 (0.8) | 2440 (94) | 994C > T |
5 | 20 | 1.41 | < .06 | .06 | 18 (0.8) | 1838 (74) | del C534 |
6 | 16 | 1.00 | < .06 | .03 | < 10 (0.1) | 1650 (90) | Unknown |
7 | 6 | 2.08 | .08 | .35 | 15 (0.8) | 3455 (92) | Unknown |
8 | 22 | 1.63 | .13 | .14 | 13 (1.0) | 1751 (89) | IVS15 + 1G > T |
9 | 14 | 1.08 | < .06 | .38 | < 10 (0.5) | 1835 (94) | 656-657ins-T |
Patient no. . | Age, y . | IgG, g/L . | IgA, g/L . | IgM, g/L . | B cells/ mm3 (%) . | T cells/ mm3 (%) . | btk mutation . |
---|---|---|---|---|---|---|---|
1 | 30 | 1.9 | < .06 | .19 | < 10 (0.8) | 1712 (75) | 1114C > T |
2 | 16 | 1.61 | < .06 | .10 | < 10 (0.6) | 2021 (94) | 188A > T |
3* | 9 | 2.62 | .34 | .24 | 14 (0.7) | 2425 (90) | 994C > T |
4* | 11 | 3.55 | .29 | .20 | 17 (0.8) | 2440 (94) | 994C > T |
5 | 20 | 1.41 | < .06 | .06 | 18 (0.8) | 1838 (74) | del C534 |
6 | 16 | 1.00 | < .06 | .03 | < 10 (0.1) | 1650 (90) | Unknown |
7 | 6 | 2.08 | .08 | .35 | 15 (0.8) | 3455 (92) | Unknown |
8 | 22 | 1.63 | .13 | .14 | 13 (1.0) | 1751 (89) | IVS15 + 1G > T |
9 | 14 | 1.08 | < .06 | .38 | < 10 (0.5) | 1835 (94) | 656-657ins-T |
Ig indicates immunoglobulin.
Patients 3 and 4 are brothers.