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Wiskott-Aldrich Syndrome, Pediatric

Elena E. Perez, MD, PhD Reviewed 10/2018
 


BASICS

DESCRIPTION

  • An X-linked primary immunodeficiency caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene

  • Originally described as clinical triad of thrombocytopenia with small platelets, e...

DIAGNOSIS

  • Diagnosis should be considered in any boy who has congenital or early-onset thrombocytopenia with small platelets.

  • Definitive diagnosis

    • Male patient

    • Congenital thrombocytopenia (<70,000/mm3)

    • ...

TREATMENT

GENERAL MEASURES

  • Antibiotics for acute infections and prophylactically in postsplenectomy patients

  • Splenectomy

    • May be helpful for persistent severe thrombocytopenia in select patients. However,...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Signs and symptoms of malignancy should be evaluated expeditiously.

  • As patients age, a progressive increase in infectious and autoimmune complica...

ADDITIONAL READING

  • Aiuti A, Biasco L, Scaramuzza S, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science.  2013;341(6148):1233151. [View Abstr...

CODES

ICD9

279.12 Wiskott-aldrich syndrome 

ICD10

D82.0 Wiskott-Aldrich syndrome 

SNOMED

36070007 Wiskott-Aldrich syndrome (disorder) 

FAQ

  • Q: What is the life expectancy for patients with WAS?

  • A: Before currently available therapies, most affected patients died in childhood. Currently, many patients live into their 3rd and 4th decades...

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