Wiskott-aldrich syndrome

An X-linked recessive disease characterized by eczema, thrombocytopenia, and immunodeficiency

Wiskott-Aldrich syndrome
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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	Mutations 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	N/A
Deaths	N/A

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disorder characterized by a triad of symptoms: eczema, thrombocytopenia (low platelet count), and immunodeficiency. It is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein (WASP), crucial for normal immune cell function.

Clinical Features

Patients with Wiskott-Aldrich syndrome typically present in infancy with bleeding due to thrombocytopenia, recurrent infections due to immunodeficiency, and eczema. The severity of symptoms can vary, but the combination of these features is characteristic of the syndrome.

Thrombocytopenia

Thrombocytopenia in WAS is often severe, leading to petechiae, purpura, and an increased risk of bleeding. The platelets in WAS are not only reduced in number but also smaller than normal (microthrombocytes).

Immunodeficiency

The immunodeficiency in WAS results from defects in both humoral and cell-mediated immunity. Patients are susceptible to recurrent bacterial, viral, and fungal infections. There is also an increased risk of developing autoimmune diseases and malignancies, particularly lymphomas.

Eczema

Eczema in WAS can range from mild to severe and is often one of the first signs of the syndrome. It can be exacerbated by infections and allergies.

Genetics

Wiskott-Aldrich syndrome is caused by mutations in the WAS gene located on the X chromosome. As an X-linked recessive condition, it predominantly affects males, while females are typically carriers. The WAS gene mutations lead to a dysfunctional WASP, affecting the actin cytoskeleton of immune cells, which is crucial for their normal function.

Diagnosis

Diagnosis of WAS is based on clinical evaluation, family history, and laboratory findings, including low platelet count and small platelets. Genetic testing can confirm the diagnosis by identifying mutations in the WAS gene.

Treatment

The mainstay of treatment for WAS is hematopoietic stem cell transplantation (HSCT), which can correct the underlying immunodeficiency and thrombocytopenia. Supportive care includes platelet transfusions, immunoglobulin replacement therapy, and management of eczema and infections. Gene therapy is an emerging treatment option.

Prognosis

The prognosis for individuals with WAS has improved significantly with advances in treatment, particularly HSCT. Early diagnosis and treatment are crucial for improving outcomes.

Also see

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