B-cell subpopulations and immunoglobulin levels of patients expressing XIAPG466X and CD40LG219R
| Patient ID* . | XIAP mutation . | CD40LG mutation . | Age, y . | % CD19+ (6-19)† . | Numbers of CD19+ (/mm3) (110-280)† . | % CD27+ (/CD19+) (> 10)‡ . | % IgD−IgM− (/CD19+) (> 4)‡ . | Ig, g/L . | ||
|---|---|---|---|---|---|---|---|---|---|---|
| IgG, 9.2-14.8† . | IgA, 1.42-2.6† . | IgM, 0.88-1.84† . | ||||||||
| II-5 | G466X | WT | 39 | 5 | 99 | 50 | 13.4 | 10.4 | 1.9 | 1.2 |
| II-7 | G466X | G219R | 22 | ND | ND | ND | ND | 1.5 | 0.2 | 0.2 |
| III-1 | G466X | G219R | 29 | 9 | 82 | 7.3 | 1.9 | 5.89 | 0.36 | 0.14 |
| III-2 | G466X | G219R | 27 | 4 | 133 | 5 | 2.4 | 5.5 | 0.4 | 0.13 |
| III-6 | G466X | G219R | 12 | 15 (8-24)§ | 304 (110-570)§ | 6.8 | 3.5 | 14.3 (10.5-14.9)§ | 4.08 (1.16-2.28)§ | 0.73 (0.88-1.72)§ |
| C† | WT | G219R | 9 | 11 (8-24)‖ | 253 (270-860)‖ | 10 | 6 | 11.5¶ (8.3-14.3)‖ | 1.74 (1.02-1.94)‖ | 0.76 (0.68-1.28)‖ |
| Patient ID* . | XIAP mutation . | CD40LG mutation . | Age, y . | % CD19+ (6-19)† . | Numbers of CD19+ (/mm3) (110-280)† . | % CD27+ (/CD19+) (> 10)‡ . | % IgD−IgM− (/CD19+) (> 4)‡ . | Ig, g/L . | ||
|---|---|---|---|---|---|---|---|---|---|---|
| IgG, 9.2-14.8† . | IgA, 1.42-2.6† . | IgM, 0.88-1.84† . | ||||||||
| II-5 | G466X | WT | 39 | 5 | 99 | 50 | 13.4 | 10.4 | 1.9 | 1.2 |
| II-7 | G466X | G219R | 22 | ND | ND | ND | ND | 1.5 | 0.2 | 0.2 |
| III-1 | G466X | G219R | 29 | 9 | 82 | 7.3 | 1.9 | 5.89 | 0.36 | 0.14 |
| III-2 | G466X | G219R | 27 | 4 | 133 | 5 | 2.4 | 5.5 | 0.4 | 0.13 |
| III-6 | G466X | G219R | 12 | 15 (8-24)§ | 304 (110-570)§ | 6.8 | 3.5 | 14.3 (10.5-14.9)§ | 4.08 (1.16-2.28)§ | 0.73 (0.88-1.72)§ |
| C† | WT | G219R | 9 | 11 (8-24)‖ | 253 (270-860)‖ | 10 | 6 | 11.5¶ (8.3-14.3)‖ | 1.74 (1.02-1.94)‖ | 0.76 (0.68-1.28)‖ |
ND indicates not determined; and WT, wild type.
Percentage of the B-cell population was determined by flow cytometric analysis from PBMCs of patients after gating on CD19+ cells.
Patient identification: The first number (in Roman numerals) corresponds to the generation and the second (Arabic numerals) to the individual in the family (see the pedigree in Figure 1A). Patient C is an unrelated control individual carrier of the CD40LG219R.
Normal values for adults.
Normal values for up to 1-year old child.
Normal values for 12-year-old child.
Normal values for 9-year-old child.
With immunoglobulin substitution.