Clinical phenotypes associated with mutations of theWASPgene.
| . | WAS . | XLT . | IXLT . | XLN . |
|---|---|---|---|---|
| WAS indicates Wiscott-Aldrich syndrome; XLT, X-linked thrombocytopenia; IXLT, intermittent XLT; XLN, X-linked neutropenia; HSCT, hematopoietic stem cell transplantation. | ||||
| *Primarily congenital neutropenia | ||||
| **Infections typical for neutropenia | ||||
| †Patients with XLT with a score of 1 or 2 might progress to a score of 5. Incidence of autoimmunity and malignancies are less in XLT than in WAS. | ||||
| ‡Splenectomy results in increased platelet numbers and reduced bleeding but causes a marked increase in sepsis, requiring continuous antibiotic prophylaxis. | ||||
| Phenotype | ||||
| Thrombocytopenia | + | + | (+) | − |
| Small platelets | + | + | + | − |
| Eczema | +/++/+++ | −/+ | − | − |
| Immune deficiency | +/++ | −/(+) | − | +* |
| Infection | +/++ | −/(+) | − | +** |
| Autoimmunity and/or malignancies | Frequent | Possible | − | − |
| Disease scores | 3, 4, or 5 | 1, 2, or (5)† | <1 | 0 |
| WASP mutations | Nonsense; frame shift caused by deletions, insertions, splicing defects | Missense (exons 1–3); inframe deletions or insertions | Missense | Missense disrupting autoinhibition |
| WASP expression | Absent or truncated | Present, reduced quantity | Present, normal quantity | Present |
| Treatment | ||||
| IVIG | Yes | No (with exceptions) | No | No |
| HSCT | Yes, at an early age | Might be considered if there is a sibling donor | No | No |
| Splenectomy | Might be considered‡ | Might be considered‡ | No | No |
| . | WAS . | XLT . | IXLT . | XLN . |
|---|---|---|---|---|
| WAS indicates Wiscott-Aldrich syndrome; XLT, X-linked thrombocytopenia; IXLT, intermittent XLT; XLN, X-linked neutropenia; HSCT, hematopoietic stem cell transplantation. | ||||
| *Primarily congenital neutropenia | ||||
| **Infections typical for neutropenia | ||||
| †Patients with XLT with a score of 1 or 2 might progress to a score of 5. Incidence of autoimmunity and malignancies are less in XLT than in WAS. | ||||
| ‡Splenectomy results in increased platelet numbers and reduced bleeding but causes a marked increase in sepsis, requiring continuous antibiotic prophylaxis. | ||||
| Phenotype | ||||
| Thrombocytopenia | + | + | (+) | − |
| Small platelets | + | + | + | − |
| Eczema | +/++/+++ | −/+ | − | − |
| Immune deficiency | +/++ | −/(+) | − | +* |
| Infection | +/++ | −/(+) | − | +** |
| Autoimmunity and/or malignancies | Frequent | Possible | − | − |
| Disease scores | 3, 4, or 5 | 1, 2, or (5)† | <1 | 0 |
| WASP mutations | Nonsense; frame shift caused by deletions, insertions, splicing defects | Missense (exons 1–3); inframe deletions or insertions | Missense | Missense disrupting autoinhibition |
| WASP expression | Absent or truncated | Present, reduced quantity | Present, normal quantity | Present |
| Treatment | ||||
| IVIG | Yes | No (with exceptions) | No | No |
| HSCT | Yes, at an early age | Might be considered if there is a sibling donor | No | No |
| Splenectomy | Might be considered‡ | Might be considered‡ | No | No |