Wiskott-Aldrich Syndrome

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Synonym: Wiskott-Aldrich-Huntley syndrome

This is an X-linked recessive condition with immunodeficiency as an underlying problem. An autosomal dominant form has also been described.[1] It is characterised by:[2]

Wiskott-Aldrich syndrome (WAS) was first described by Wiskott in Germany in 1937[3] and later by Aldrich in the USA in 1954.[4] However, descriptions of the condition go back to the 19th century.[5]

  • The underlying mutation is in the gene for the Wiskott-Aldrich syndrome protein (WASP) on the X-chromosome at Xp11.22-23.[6]
  • WASP is needed for normal antibody function, T-cell responses and platelet production.
  • The incidence of the classic syndrome is estimated to be between one and ten in one million individuals, although it is likely to be higher.[7]
  • Being X-linked and potentially lethal, it would be expected almost invariably to affect males and more than 90% of affected patients are male. However, affected females have been reported.
  • Affected females usually have no family history and some have been shown to have nonrandom inactivation of the X chromosome bearing the functional Wiskott-Aldrich syndrome (WAS) allele.

Presentation can be any time from birth to 25 years but most cases present in the first 2 years of life. Less than one third of affected individuals have the full triad at presentation but almost 90% present with features of thrombocytopenia. Around 5% present only with infection and 20% only with haematological problems.[8]

  • Bleeding problems:
    • Petechiae and ecchymoses can occur.These may be around the oral mucosa.
    • Bloody diarrhoea is quite common.
    • There may be bleeding from the umbilical stump or after circumcision.
    • In fewer than 2% there is intracranial haemorrhage. This may happen at birth, possibly from the trauma of delivery.
  • Infections:
  • Eczema:
    • This tends to develop during the first year of life and it is clinically similar to atopic eczema.
    • However, it presents earlier than usual and may be worse during infection.
    • There may be other atopic conditions such as allergic rhinitis.
  • Autoimmune disease:
  • Malignancy:
    • This may occur in children but is more common in adults.
    • Around a quarter of those over 20 years develop lymphoma.
    • Leukaemia may also occur but the most common malignancy is non-Hodgkin's lymphoma.
  • Low platelet count (≤70 x 109/L).[2]
  • Low mean platelet volume (<5fL).
  • Low IgG and IgM levels with elevated IgA and IgE (values need to be interpreted for age).
  • Testing may show impairment of cell-mediated immunity.
  • Autoantibodies may be detected if autoimmune disease is present, especially in autoimmune haemolytic anaemia and immune thrombocytopenia and neutropenia.
  • Consider the diagnosis in boys with thrombocytopenia. Detection of the Wiskott-Aldrich syndrome protein (WASP) can facilitate the diagnosis.[10]
  • Bacteriology is required to help treat infection.
  • Chest X-ray may be indicated depending on infective symptoms.
  • Renal and liver function should be monitored.
  • Tissue typing of the patient and close family members may be indicated if stem cell transplantation is considered.
  • Carrier females may have low platelet counts.[11]


  • All immunisations should be given as usual. Hib is especially important.
  • Encourage normal work and school but avoid contact sports.

Medical management

  • Infections will need appropriate antibiotics. Infusion of immunoglobulin may also be required.
  • Bleeding may require transfusion of packed red cells and platelets. Blood should be low in white cells to reduce the risk of isoimmunisation, as a stem cell transplant may be required in the future.
  • Skin disease should be treated, including treating eczema with moisturising creams and topical steroid preparations as indicated.
  • If there is exposure to chickenpox, immunoglobulin or antivirals such as aciclovir are indicated. Varicella vaccine may be protective.
  • In severe thrombocytopenia, splenectomy may be indicated but this also increases the risk of infection. Prophylactic antibiotics and immunisation (pneumococcal, Hib and meningococcal) are needed.[2]
  • Autoimmune diseases are managed in the normal way.

Potential cure

  • Stem cell transplant can offer the chance of cure. It may be successful in over 90% of cases.[2, 12]
  • In the future, gene therapy may also be an option.[13]
  • Recurrent infections as outlined above.
  • Bleeding can be difficult to control and intracranial bleeding may occur.
  • Chronic renal disease may be associated with autoimmune disease.
  • Haematological malignancy, especially non-Hodgkin's lymphoma.
  • Graft-versus-host disease and other complications from stem cell-transplantation.
  • The prognosis has improved enormously over the years due to improved control of infection, transfusion services and stem cell transplantation.
  • If stem cell transplantation is not carried out, individuals usually survive until their second or third decade and die from bleeding, malignancy or infection.[2]
  • Successful stem cell transplantation can mean reversal to normal immune function and the potential for a normal life span.[2]
  • A recent multicentre study looked at long-term outcome following stem cell transplantation in Wiskott-Aldrich syndrome (WAS). Amongst 96 patients, three patients died 2.1 to 21 years following transplantation. Overall 7-year event-free survival rate was 75%.[14]
  • This can detect mutations in the Wiskott-Aldrich syndrome protein (WASP) gene in those with a family history of Wiskott-Aldrich syndrome (WAS).
  • It may allow planning for Caesarean section to reduce the risk of intracranial bleeding due to birth trauma.
  • It may also allow planning for early stem cell transplantation, as this can improve prognosis.

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Original Author:
Dr Michelle Wright
Current Version:
Dr Hayley Willacy
Document ID:
2940 (v23)
Last Checked:
20 April 2011
Next Review:
18 April 2016

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