Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency disease with a characteristic clinical phenotype that includes:
- X-linked recessive and only occurs in boys
- petechiae, bloody diarrhoea, epistaxis due to thrombocytopaenia 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 polymerization in haematopoietic cells as a result of deficient or dysregulated activity of the Wiskott-Aldrich syndrome protein (WASp) which has multiple functions. There is poor antibody response to polysaccharide antigens. Low Ig M but high Ig A and Ig E 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 genotype to 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 thrombocytopaenia. The genetics, i.e. X-linked recessive disorder, were described by Aldrich 7 in 1954.
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