Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency disease.

Epidemiology

The incidence currently quoted is approximately 4 per million live male births, although there can be regional variation. Rarely occurs in females.

Clinical presentation

It has a characteristic phenotype that includes:

  • petechiae, bloody diarrhea, and epistaxis due to thrombocytopenia with small platelets
  • eczema that starts in the first month of life
  • recurrent infections with encapsulated bacteria due to immunodeficiency
  • increased incidence of autoimmune manifestations and malignancies (e.g. primary CNS lymphoma)

Pathology

The pathophysiology relates to structural mutation with defective actin polymerization in hematopoietic 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.

Genetics

It is mostly an X-linked recessive condition.

Associations

Treatment and prognosis

The severity of the disease is variable and can be predictable from the genotype to a certain degree. Bone marrow transplantation may be the only definitive treatment .

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  in 1954.

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