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Wiskott-Aldrich Syndrome

Jason Cross, PharmD, Sudeep Kaur Aulakh, MD and Ali Naraghi, PharmD Reviewed 05/2023
 


BASICS

DESCRIPTION

  • Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive condition characterized by eczema, immune deficiency, and microthrombocytopenia  (1).

  • Clinically it presents as severe ecze...

DIAGNOSIS

  • Should be suspected in a male with microthrombocytopenia and excessive bruising/bleeding

  • Definitive diagnosis: male patient with microthrombocytopenia (platelet <70,000/mm3) and one of the...

TREATMENT

GENERAL MEASURES

Ensure immunizations are up to date. Immunize with protein, conjugate, and polysaccharide vaccines. Avoid live viral and attenuated viral vaccines. 

MEDICATION

Used to provide ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Avoid contact sports and prevent head injuries

  • Avoid medications that interfere with platelet function

Patient Monitoring

As needed for therapy; monitor for infectio...

REFERENCES

1
Hacein-Bey Abina  S, Gaspar  HB, Blondeau  J, et al. Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. JAMA. ...

ADDITIONAL READING

  • Frecha  C, Toscano  MG, Costa  C, et al. Improved lentiviral vectors for Wiskott-Aldrich syndrome gene therapy mimic endogenous expression profiles throug...

SEE ALSO

Immune Thrombocytopenia (ITP); Immunodeficiency Diseases 

CODES

ICD10

D82.0 Wiskott-Aldrich syndrome 

SNOMED

36070007 Wiskott-Aldrich syndrome (disorder) 

CLINICAL PEARLS

  • Rare, X-linked; consider WAS if prolonged bleeding following circumcision and in children with recurrent infections, eczema, and low platelet counts.

  • HSCT may be curative

  • Mnemonic (TIME)...

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