Definition of a distinct WAS subgroup with respect to SRT status and assignment of an Ochs score of 5 under the age of 2 years. In this subgroup, HSCT should be performed as early as possible.
| Disease phenotype . | XLT . | Classical WAS phenotype . | Severe WAS phenotype . | Early-onset severe WAS . | ||
|---|---|---|---|---|---|---|
| Severity score | 1 | 2 | 3 | 4 | 5 | EOS |
| Onset before the age of 2 y | −/+ | −/+ | −/+ | −/+ | − | + |
| Thrombocytopenia | + | + | + | + | + | + |
| Microthrombocytes | + | + | + | + | + | + |
| Eczema | − | −/+ | + | +/++ | +/++ | +/++ |
| Immunodeficiency | − | −/+ | + | + | + | + |
| Infections | − | −/+ | + | +/++ | +/++ | + |
| Autoimmunity and/or vasculitis and/or neoplasia | − | − | − | − | + | +/++ |
| Severe refractory thrombocytopenia | − | − | − | − | − | +* |
| Disease phenotype . | XLT . | Classical WAS phenotype . | Severe WAS phenotype . | Early-onset severe WAS . | ||
|---|---|---|---|---|---|---|
| Severity score | 1 | 2 | 3 | 4 | 5 | EOS |
| Onset before the age of 2 y | −/+ | −/+ | −/+ | −/+ | − | + |
| Thrombocytopenia | + | + | + | + | + | + |
| Microthrombocytes | + | + | + | + | + | + |
| Eczema | − | −/+ | + | +/++ | +/++ | +/++ |
| Immunodeficiency | − | −/+ | + | + | + | + |
| Infections | − | −/+ | + | +/++ | +/++ | + |
| Autoimmunity and/or vasculitis and/or neoplasia | − | − | − | − | + | +/++ |
| Severe refractory thrombocytopenia | − | − | − | − | − | +* |
EOS indicates early-onset, severe WAS phenotype.
Observed frequently, but not in all patients.