Wiskott aldrich syndrome

Wiskott–Aldrich syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Eczema, thrombocytopenia, recurrent infections
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 immunodeficiency disorder characterized by a triad of symptoms: eczema, thrombocytopenia, and recurrent infections. It is caused by mutations in the WAS gene, which encodes the Wiskott–Aldrich syndrome protein (WASP), crucial for normal immune cell function.

Etiology

Wiskott–Aldrich syndrome is caused by mutations in the WAS gene located on the short arm of the X chromosome (Xp11.23). The WAS gene encodes the Wiskott–Aldrich syndrome protein (WASP), which is involved in the regulation of the actin cytoskeleton in hematopoietic cells. Mutations in this gene lead to defective WASP, resulting in impaired immune cell function and platelet formation.

Pathophysiology

The defective WASP protein affects the function of various immune cells, including T cells, B cells, natural killer cells, and dendritic cells. This leads to impaired immune responses, making individuals susceptible to recurrent infections. Additionally, the abnormal actin cytoskeleton affects platelet formation, leading to thrombocytopenia and small platelets.

Clinical Features

The classic triad of symptoms in Wiskott–Aldrich syndrome includes:

• Eczema: A chronic inflammatory skin condition characterized by itchy, red, and scaly rashes.
• Thrombocytopenia: Low platelet count, leading to easy bruising, petechiae, and increased risk of bleeding.
• Recurrent infections: Due to immunodeficiency, patients are prone to bacterial, viral, and fungal infections.

Other clinical features may include autoimmune disorders such as autoimmune hemolytic anemia, vasculitis, and an increased risk of malignancies, particularly lymphoma and leukemia.

Diagnosis

Diagnosis of Wiskott–Aldrich syndrome is based on clinical evaluation, family history, and laboratory findings. Key diagnostic tests include:

• Complete blood count (CBC): Reveals thrombocytopenia and small platelets.
• Immunological tests: Show abnormalities in T and B cell function.
• Genetic testing: Confirms mutations in the WAS gene.

Management

The mainstay of treatment for Wiskott–Aldrich syndrome is hematopoietic stem cell transplantation (HSCT), which can potentially cure the disease. Supportive care includes:

• Immunoglobulin replacement therapy: To prevent infections.
• Antibiotic prophylaxis: To reduce the risk of bacterial infections.
• Platelet transfusions: For severe thrombocytopenia.
• Management of eczema: Using topical treatments and skin care.

Prognosis

The prognosis of Wiskott–Aldrich syndrome has improved significantly with advances in HSCT and supportive care. Early diagnosis and treatment are crucial for better outcomes. Without treatment, the condition can lead to severe complications and reduced life expectancy.

Epidemiology

Wiskott–Aldrich syndrome is a rare disorder, with an estimated incidence of 1 in 100,000 live male births. It primarily affects males due to its X-linked recessive inheritance pattern.

See Also

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