Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency disease with a characteristic phenotype that includes:
- X-linked recessive and only occurs in boys
- petechiae, bloody diarrhoea, epistaxis due to thrombocytopenia with small platelets
- eczema starts in first month of life
- recurrent infections with encapsulated bacteria due to immunodeficiency
- increased incidence of autoimmune manifestations and malignancies
The incidence currently quoted is approximately 4 per million live male births, although there can be regional variation. Only occurs in males.
The pathophysiology relates to structural mutation with defective actin polymerisation in haematopoietic cells as a result of deficient or dysregulated activity of the Wiskott-Aldrich syndrome protein (WASp) which has multiple functions. There is a poor antibody response to polysaccharide antigens. Low IgM, but high IgA and IgE levels.
It is mostly an X-linked recessive condition.
- may predispose to malignancies such as primary CNS lymphoma
Treatment and prognosis
The severity of disease is variable and can be predictable from the genotype to a certain degree. Bone marrow transplantation may be the only definitive treatment 5.
History and etymology
It was originally described by Wiskott in 1937 as a triad of ear discharge, eczema and thrombocytopenia. The genetics, i.e. X-linked recessive disorder, were described by Aldrich 7 in 1954.
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