Patient characteristics
Subjects . | Age . | Score . | Mutation . | Gene location . | Predicted effect . | Protein expression . | Lymphocytes, × 109/L (n.v.) . |
|---|---|---|---|---|---|---|---|
| W1 | 10 mo | 3* | 71C > T | Exon 1 | Arg13Stop | Absent | 4.5 (2.6-10.4) |
| W2 | 11 mo | 2* | 290C > T | Exon 2 | Arg86Cys | ND | 4.8 (2.6-10.4) |
| W3 | 12 mo | 2* | 6-bp ins nt 434 | Exon 4 | Asp/Glu ins | Absent | 4.4 (2.6-10.4) |
| W4 | 15 mo | 3* | G > A (+ 1) | Intron 8 | fs, stop aa246 | Absent | 2.4 (2.6-10.4) |
| W5 | 7 y | 1 | 1487G > A | Exon 11 | Asp485Asn | Reduced | 3.3 (1.1-5.9) |
| W6 | 14 y | 2 | 291G > A | Exon 2 | Arg86His | Reduced | 1.5 (1.0-5.3) |
| W7 | 15 y | 2 | 291G > A | Exon 2 | Arg86His | Reduced | 1.3 (1.0-5.3) |
| W8 | 15 y | 5 | 953A > G | Exon 9 | Met307Val | Absent | 2.4 (1.0-5.3) |
| W9 | 15 y | 3 | 290C > T | Exon 2 | Arg86Cys | Reduced | 3.5 (1.0-5.3) |
| W10 | 18 y | 3 | 290C > T | Exon 2 | Arg86Cys | Reduced | 1.6 (1.0-2.8) |
| W11 | 19 y | 5 | 150T > C | Exon 1 | Leu39Pro | Absent | 0.9 (1.0-2.8) |
| W12 | 22 y | 1 | 389G > A | Exon 3 | Gly119Arg | Reduced | 2.1 (1.0-2.8) |
| W13 | 36 y | 2 | 995C > T | Exon 10 | Arg321Stop | ND | 1.1 (1.0-2.8) |
Subjects . | Age . | Score . | Mutation . | Gene location . | Predicted effect . | Protein expression . | Lymphocytes, × 109/L (n.v.) . |
|---|---|---|---|---|---|---|---|
| W1 | 10 mo | 3* | 71C > T | Exon 1 | Arg13Stop | Absent | 4.5 (2.6-10.4) |
| W2 | 11 mo | 2* | 290C > T | Exon 2 | Arg86Cys | ND | 4.8 (2.6-10.4) |
| W3 | 12 mo | 2* | 6-bp ins nt 434 | Exon 4 | Asp/Glu ins | Absent | 4.4 (2.6-10.4) |
| W4 | 15 mo | 3* | G > A (+ 1) | Intron 8 | fs, stop aa246 | Absent | 2.4 (2.6-10.4) |
| W5 | 7 y | 1 | 1487G > A | Exon 11 | Asp485Asn | Reduced | 3.3 (1.1-5.9) |
| W6 | 14 y | 2 | 291G > A | Exon 2 | Arg86His | Reduced | 1.5 (1.0-5.3) |
| W7 | 15 y | 2 | 291G > A | Exon 2 | Arg86His | Reduced | 1.3 (1.0-5.3) |
| W8 | 15 y | 5 | 953A > G | Exon 9 | Met307Val | Absent | 2.4 (1.0-5.3) |
| W9 | 15 y | 3 | 290C > T | Exon 2 | Arg86Cys | Reduced | 3.5 (1.0-5.3) |
| W10 | 18 y | 3 | 290C > T | Exon 2 | Arg86Cys | Reduced | 1.6 (1.0-2.8) |
| W11 | 19 y | 5 | 150T > C | Exon 1 | Leu39Pro | Absent | 0.9 (1.0-2.8) |
| W12 | 22 y | 1 | 389G > A | Exon 3 | Gly119Arg | Reduced | 2.1 (1.0-2.8) |
| W13 | 36 y | 2 | 995C > T | Exon 10 | Arg321Stop | ND | 1.1 (1.0-2.8) |
n.v. indicates normal values; ND, not determined.
The score compatible with the clinical presentation of the patient is listed, although the full picture of the disease may have not yet developed due to the patient's young age