Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disorder characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and an increased risk of autoimmune diseases and malignancies. The syndrome is named after Dr. Alfred Wiskott, who first described the condition in 1937, and Dr. Robert Aldrich, who later identified its genetic basis.

Genetics

Wiskott-Aldrich syndrome is caused by mutations in the WAS gene located on the X chromosome. The WAS gene encodes the Wiskott-Aldrich syndrome protein (WASP), which is crucial for the function of hematopoietic cells. Mutations in the WAS gene lead to defective WASP, impairing the ability of immune cells to respond to infections and causing the characteristic symptoms of the syndrome.

Symptoms

The clinical presentation of Wiskott-Aldrich syndrome can vary but typically includes:

• Eczema: A chronic skin condition characterized by itchy, inflamed skin.
• Thrombocytopenia: Low platelet count, leading to easy bruising and bleeding.
• Immune deficiency: Increased susceptibility to infections due to impaired immune function.
• Autoimmune diseases: Conditions where the immune system attacks the body's own tissues.
• Increased risk of malignancies, particularly lymphomas and leukemias.

Diagnosis

Diagnosis of Wiskott-Aldrich syndrome is based on clinical findings, family history, and genetic testing to identify mutations in the WAS gene. Laboratory tests may show low platelet count, abnormal platelet size, and reduced levels of WASP in blood cells.

Treatment

Treatment options for Wiskott-Aldrich syndrome include:

• Hematopoietic stem cell transplantation (HSCT): The only curative treatment, which involves replacing the defective immune system with healthy donor cells.
• Immunoglobulin replacement therapy: To boost the immune system and prevent infections.
• Antibiotics: To treat and prevent infections.
• Platelet transfusions: To manage bleeding episodes.
• Immunosuppressive therapy: To control autoimmune manifestations.

Prognosis

The prognosis for individuals with Wiskott-Aldrich syndrome has improved significantly with advances in treatment, particularly HSCT. Early diagnosis and appropriate management are crucial for improving outcomes and quality of life.

Related Pages

• X-linked recessive inheritance
• Eczema
• Thrombocytopenia
• Immune deficiency
• Autoimmune disease
• Hematopoietic stem cell transplantation
• Immunoglobulin replacement therapy