Wiskott-Aldrich syndrome

Last revised by Daniel J Bell on 10 Jul 2021

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

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

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)

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.

It is mostly an X-linked recessive condition.

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 5.

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.

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.