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 petechiae, hematoma and eczema

X-linked recessive

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

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

Patients are at increased risk for developing autoimmune diseases and malignancies, such as lymphoma.

Genetics

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

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

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

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

• Immunodeficiency
• X-linked recessive inheritance
• Hematopoietic stem cell transplantation

External Links

• Immune Deficiency Foundation - Wiskott–Aldrich Syndrome
• Genetic and Rare Diseases Information Center - Wiskott–Aldrich Syndrome