* This is the Professional Version. *
Wiskott-Aldrich Syndrome
Patient Education
- Immunodeficiency Disorders
- Overview of Immunodeficiency Disorders
- Approach to the Patient With Suspected Immunodeficiency
- Ataxia-Telangiectasia
- Chédiak-Higashi Syndrome
- Chronic Granulomatous Disease (CGD)
- Chronic Mucocutaneous Candidiasis
- Common Variable Immunodeficiency (CVID)
- DiGeorge Syndrome
- Hyper-IgE Syndrome
- Hyper-IgM Syndrome
- Selective IgA Deficiency
- Leukocyte Adhesion Deficiency
- Selective Antibody Deficiency With Normal Immunoglobulins (SADNI)
- Severe Combined Immunodeficiency (SCID)
- Transient Hypogammaglobulinemia of Infancy
- Wiskott-Aldrich Syndrome
- X-linked Agammaglobulinemia
- X-linked Lymphoproliferative Syndrome
- ZAP-70 Deficiency
Wiskott-Aldrich syndrome results from a combined B- and T-cell defect and is characterized by recurrent infection, eczema, and thrombocytopenia.
(See also Overview of Immunodeficiency Disorders and Approach to the Patient With an Immunodeficiency Disorder.)
Wiskott-Aldrich syndrome is a primary immunodeficiency disorder that involves combined humoral and cellular immunity deficiencies.
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 herpesvirus are common.
Symptoms and Signs
Diagnosis
Diagnosis of Wiskott-Aldrich syndrome is based on the following:
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 CBC with differential is usually done every 6 mo. Acute changes in symptoms related to B-cell dysfunction require more in-depth evaluations.
Treatment
Treatment 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.
Drugs Mentioned In This Article
-
Drug NameSelect Trade
-
acyclovirZOVIRAX
- Immunodeficiency Disorders
- Overview of Immunodeficiency Disorders
- Approach to the Patient With Suspected Immunodeficiency
- Ataxia-Telangiectasia
- Chédiak-Higashi Syndrome
- Chronic Granulomatous Disease (CGD)
- Chronic Mucocutaneous Candidiasis
- Common Variable Immunodeficiency (CVID)
- DiGeorge Syndrome
- Hyper-IgE Syndrome
- Hyper-IgM Syndrome
- Selective IgA Deficiency
- Leukocyte Adhesion Deficiency
- Selective Antibody Deficiency With Normal Immunoglobulins (SADNI)
- Severe Combined Immunodeficiency (SCID)
- Transient Hypogammaglobulinemia of Infancy
- Wiskott-Aldrich Syndrome
- X-linked Agammaglobulinemia
- X-linked Lymphoproliferative Syndrome
- ZAP-70 Deficiency
* This is the Professional Version. *
Also of Interest
Test your knowledge
Immunodeficiency typically manifests as recurrent infections. However, there are more likely causes of recurrent infections, such as inadequate duration of antibiotic treatment, resistant organisms, and other disorders that predispose to infection. Immunodeficiency should be suspected EXCEPT when recurrent infections are which of the following?
STUDENTSTORIES
A MEDICAL EDUCATION BLOG
Kimia
Meghan