Clinical characteristics of 15 WAS patients
| Patient ID . | Age at sample collection . | Clinical score . | Protein expression . | Exon location . | WAS gene mutation . | Codon change or predicted splicing abnormality . | Auto antibody . | B-cell number ×108/L . |
|---|---|---|---|---|---|---|---|---|
| P1 | 2 y, 1 mo | 5A | Absent | Exon 4 | 431 G>A | E133K | Present | 4.523 |
| P2 | 3 y, 4 mo | 2 | Absent | Exon 2 | 201 C>T | A56V | Absent | 2.394 |
| P3 | 1 y, 2 mo | 3 | Absent | Exon 1 | 71 C>T | R13X | Absent | 8.75 |
| P4 | 5 y, 6 mo | 4 | Absent | Exon 7 | 665 C>T | R211X | Absent | 4.678 |
| P5 | 3 y, 6 mo | 3 | Double peak | Exon 1 | 71 C>T | R13X | Absent | 3.682 |
| P6 | 4 y, 2 mo | 3 | Absent | Exon 10 | 1092 del C | P353fsX444 | Absent | 1.44 |
| P7 | 4 y, 5 mo | 3 | Absent | Exon 4 | 431 G>A | E133K | Absent | 3.567 |
| P8 | 7 mo | 3 | Double peak | Exon 7 | 665 C>T | R211X | Absent | 9.112 |
| P9 | 2 y | 5A | Absent | Exon 1-2 fragment deletion | 1412 C>T | P460S | Present | 4.2 |
| P10 | 4 y, 9 mo | 2 | Decreased | Exon 2 | 257 G>A | V75M | Absent | 6.495 |
| P11 | 3 mo | 4 | Absent | Exon 10 | 995 C>T | R321X | Absent | 2.052 |
| P12 | 1 mo | 3 | Decreased | Exon 1 | 125 G>A | E31K | Absent | 4.563 |
| P13 | 1 y, 9 mo | 5A | Absent | Intron 8 | IVS8+2 ins T | Present | 6.2128 | |
| P14 | 1 y, 5 mo | 3 | Absent | Intron 8 | IVS8+1 G>A | Absent | 6.28 | |
| P15 | 6 mo | 2 | Absent | Exon 10 | 1268-1269 ins CC | P413fsX445 | Absent | 2.3835 |
| Patient ID . | Age at sample collection . | Clinical score . | Protein expression . | Exon location . | WAS gene mutation . | Codon change or predicted splicing abnormality . | Auto antibody . | B-cell number ×108/L . |
|---|---|---|---|---|---|---|---|---|
| P1 | 2 y, 1 mo | 5A | Absent | Exon 4 | 431 G>A | E133K | Present | 4.523 |
| P2 | 3 y, 4 mo | 2 | Absent | Exon 2 | 201 C>T | A56V | Absent | 2.394 |
| P3 | 1 y, 2 mo | 3 | Absent | Exon 1 | 71 C>T | R13X | Absent | 8.75 |
| P4 | 5 y, 6 mo | 4 | Absent | Exon 7 | 665 C>T | R211X | Absent | 4.678 |
| P5 | 3 y, 6 mo | 3 | Double peak | Exon 1 | 71 C>T | R13X | Absent | 3.682 |
| P6 | 4 y, 2 mo | 3 | Absent | Exon 10 | 1092 del C | P353fsX444 | Absent | 1.44 |
| P7 | 4 y, 5 mo | 3 | Absent | Exon 4 | 431 G>A | E133K | Absent | 3.567 |
| P8 | 7 mo | 3 | Double peak | Exon 7 | 665 C>T | R211X | Absent | 9.112 |
| P9 | 2 y | 5A | Absent | Exon 1-2 fragment deletion | 1412 C>T | P460S | Present | 4.2 |
| P10 | 4 y, 9 mo | 2 | Decreased | Exon 2 | 257 G>A | V75M | Absent | 6.495 |
| P11 | 3 mo | 4 | Absent | Exon 10 | 995 C>T | R321X | Absent | 2.052 |
| P12 | 1 mo | 3 | Decreased | Exon 1 | 125 G>A | E31K | Absent | 4.563 |
| P13 | 1 y, 9 mo | 5A | Absent | Intron 8 | IVS8+2 ins T | Present | 6.2128 | |
| P14 | 1 y, 5 mo | 3 | Absent | Intron 8 | IVS8+1 G>A | Absent | 6.28 | |
| P15 | 6 mo | 2 | Absent | Exon 10 | 1268-1269 ins CC | P413fsX445 | Absent | 2.3835 |