| Symbol
| WASP
|
| Location
| Xp11.23
|
| Name
|
Wiskott-Aldrich syndrome |
| Other name(s)
|
immunodeficiency 2
Aldrich syndrome |
| Corresponding gene
|
WAS
|
| Other symbol(s)
| IMD2, WAS
|
| Main clinical features
|
affected males usually present in infancy with profound thrombocytopenia and small platelets size with risk of serious bleeding, eczema, recurrent bacterial and viral complications. WAS is a life-threatening condition. Surviving patients are at risk of lymphoma and autoimmune disorders.
remarkable variable expressivity of clinical findings even in the same kindred |
| Genetic determination
| sex linked |
| Prevalence
| 1-10 per million males
|
| Related entries
| XLT, XLN
|
| Function/system disorder
| hematology |
| Type
| disease
|
| Name
| Wiskott-Aldrich syndrome protein (WASP)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
| abnormal protein/loss of function
| ~240 pathologic WAS mutations described,with half of them being missence or nonsense mutation and the remaining of various other types, thoroughly distributed
| |
| Remark(s)
|
WAS related disorders include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT) and X-linked neutropenia (XLN). They represent a continuum rather than distinct entities
Pro373Ser mutation reduces Tyr291 phosphorylation and prevents conformational changes required for WASP activity in chemotaxis and T-cell activation (PMID: 24440360)) |
| Genotype/Phenotype correlations
|
WAS protein expression could be a better predictor of clinical severity than mutation alone |