Wiskott–Aldrich syndrome
Wiskott–Aldrich syndrome | |
---|---|
Synonyms | N/A |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Recurrent infections, eczema, thrombocytopenia |
Complications | Autoimmune diseases, malignancies |
Onset | Infancy |
Duration | Lifelong |
Types | N/A |
Causes | Genetic mutation in the WAS gene |
Risks | Male gender (X-linked recessive) |
Diagnosis | Clinical evaluation, genetic testing |
Differential diagnosis | N/A |
Prevention | N/A |
Treatment | Hematopoietic stem cell transplantation, supportive care |
Medication | N/A |
Prognosis | Variable, improved with treatment |
Frequency | Rare |
Deaths | N/A |
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive genetic disorder characterized by a triad of eczema, recurrent infections, and thrombocytopenia (low platelet count). It is caused by mutations in the WAS gene, which encodes the Wiskott–Aldrich syndrome protein (WASP), crucial for normal immune cell function.
Signs and Symptoms[edit | edit source]
Individuals with Wiskott–Aldrich syndrome typically present in infancy with:
- Recurrent bacterial, viral, and fungal infections due to immunodeficiency.
- Eczema, a skin condition causing itchy and inflamed patches.
- Thrombocytopenia, leading to easy bruising and bleeding.
Complications[edit | edit source]
Patients are at increased risk for developing autoimmune diseases and malignancies, such as lymphoma.
Genetics[edit | edit source]
Wiskott–Aldrich syndrome is inherited in an X-linked recessive pattern, meaning it primarily affects males. The WAS gene mutation leads to defective WASP, impairing the function of T cells, B cells, and platelets.
Diagnosis[edit | edit source]
Diagnosis is based on clinical evaluation, family history, and confirmed by genetic testing for mutations in the WAS gene. Laboratory findings include low platelet count and abnormal immune cell function.
Treatment[edit | edit source]
The mainstay of treatment is hematopoietic stem cell transplantation (HSCT), which can cure the immunodeficiency and thrombocytopenia. Supportive care includes:
- Immunoglobulin replacement therapy
- Antibiotic prophylaxis
- Management of eczema and bleeding
Prognosis[edit | edit source]
With advances in treatment, particularly HSCT, the prognosis for individuals with Wiskott–Aldrich syndrome has improved significantly. Early diagnosis and treatment are crucial for better outcomes.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD