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Wiskott-Aldrich Syndrome

By

James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Last full review/revision Dec 2019| Content last modified Dec 2019
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NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version

Wiskott-Aldrich syndrome results from a combined B- and T-cell defect and is characterized by recurrent infection, eczema, and thrombocytopenia.

Inheritance is X-linked recessive. Wiskott-Aldrich syndrome is caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASP), a cytoplasmic protein necessary for normal B- and T-cell signaling.

Because B- and T-cell functions are impaired, infections with pyogenic bacteria and opportunistic organisms, particularly viruses and Pneumocystis jirovecii, develop. Infections with varicella zoster virus and herpes simplex virus are common.

Symptoms and Signs

The first manifestations are often hemorrhagic (usually bloody diarrhea), followed by recurrent respiratory infections, eczema, and thrombocytopenia.

Cancers, especially B -cell lymphomas (EBV+) and acute lymphocytic leukemia, develop in about 10% of patients > 10 years.

Diagnosis

  • Immunoglobulin levels

  • Platelet count and volume assessment

  • White blood cell function tests (eg, neutrophil chemotaxis, T-cell function)

Diagnosis of Wiskott-Aldrich syndrome is based on the following:

  • Decreased T-cell count and function

  • Elevated IgE and IgA levels

  • Low IgM levels

  • Low or normal IgG levels

  • Decreased natural killer cell cytotoxicity

  • Impaired neutrophil chemotaxis

Antibodies to polysaccharide antigens (eg, blood group antigens A and B) may be selectively deficient. Platelets are small and defective, and splenic destruction of platelets is increased, causing thrombocytopenia. Mutation analysis may be used to confirm the diagnosis.

Genetic testing is recommended for 1st-degree relatives.

Because risk of lymphoma and leukemia is increased, a complete blood count with differential is usually done every 6 months. Acute changes in symptoms related to B-cell dysfunction require more in-depth evaluations.

Treatment

  • Supportive care using prophylactic immune globulin, antibiotics, and acyclovir

  • For symptomatic thrombocytopenia, platelet transfusion and rarely splenectomy

  • Hematopoietic stem cell transplantation

Treatment of Wiskott-Aldrich syndrome is prophylactic antibiotics and immune globulin to prevent recurrent bacterial infections, acyclovir to prevent severe herpes simplex virus infections, and platelet transfusions to treat hemorrhage. If thrombocytopenia is severe, splenectomy can be done, but it is usually avoided because it increases risk of septicemia.

The only established cure is hematopoietic stem cell transplantation, but gene therapy is under study.

Without transplantation, most patients die by age 15; however, some patients survive into adulthood.

Click here for Patient Education
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version
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