Description of patients' manifestations and mutations
| Patient no. . | Eczema . | Infections . | Immunodeficiency . | Autoimmunity/malignancy . | Clinical score . | Mutations* . |
|---|---|---|---|---|---|---|
| 1 | ++ | + | + | + | 5 | Exon 6/intron 6; |
| del559G → 559 + 11 | ||||||
| 2 | ++ | ++ | + | − | 4 | Exon 2; |
| C249A | ||||||
| 3 | ++ | ++ | + | + | 5 | Intron 11 |
| nt16 c → t | ||||||
| 4 | ++ | ++ | + | + | 5 | Intron 1 |
| A133-1 g → a | ||||||
| 5 | + | + | + | + | 5 | Exon 7 |
| C631T | ||||||
| 6 | + | − | − | − | 2 | Exon 11 |
| 1447 ins T |
| Patient no. . | Eczema . | Infections . | Immunodeficiency . | Autoimmunity/malignancy . | Clinical score . | Mutations* . |
|---|---|---|---|---|---|---|
| 1 | ++ | + | + | + | 5 | Exon 6/intron 6; |
| del559G → 559 + 11 | ||||||
| 2 | ++ | ++ | + | − | 4 | Exon 2; |
| C249A | ||||||
| 3 | ++ | ++ | + | + | 5 | Intron 11 |
| nt16 c → t | ||||||
| 4 | ++ | ++ | + | + | 5 | Intron 1 |
| A133-1 g → a | ||||||
| 5 | + | + | + | + | 5 | Exon 7 |
| C631T | ||||||
| 6 | + | − | − | − | 2 | Exon 11 |
| 1447 ins T |
The clinical score was assessed as described by Ochs et al.1 All patients had thrombocytopenia and small platelets.
del indicates deletion; nt, nucleotide; ins, insertion.
Consequences on WASP expression: patient no. 1: splice variant, frameshift, 0% WASP protein expression expected, similar to patient P39 reported by Remold-O'Donnell et al21; patient no. 2: Y83stop, no WASP expression as shown in Western blot (Figure 2); patient no. 3: unknown consequences, Western blot could not be performed; patient no. 4: splice acceptor affected, possible loss of exon 2 and splicing of exon 1 to exon 3 in frame as long as there is no cryptic splice acceptor used, 0% WASP expression expected, similar to patient P37 reported by Remold-O'Donnell et al21; patient no. 5: R211stop, 0% WASP expression expected, similar to patient Dma reported by Zhu et al22; patient no. 6: 483 frameshift leading to stop at 494, low level of WASP expression as shown in Western blot (Fig 2).