What is the prevalence of Wiskott-Aldrich syndrome?
How many people does Wiskott-Aldrich syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Wiskott-Aldrich syndrome is a rare X-linked recessive disorder characterized by immune deficiency, eczema, and low platelet count. It primarily affects males, with an estimated prevalence of 1 in 100,000 to 1 in 250,000 live births. The syndrome is caused by mutations in the WAS gene, which plays a crucial role in immune cell function. Individuals with Wiskott-Aldrich syndrome are prone to infections, bleeding, and autoimmune disorders. Early diagnosis and appropriate management are essential to improve outcomes and quality of life for affected individuals.
Wiskott-Aldrich syndrome is a rare X-linked recessive disorder characterized by a triad of symptoms: eczema, thrombocytopenia (low platelet count), and immunodeficiency. It primarily affects males, with an estimated prevalence of 1 in 100,000 to 1 in 250,000 live births.
The syndrome is caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, which plays a crucial role in regulating the cytoskeleton and immune cell function. These mutations lead to impaired platelet production, defective immune responses, and increased susceptibility to infections.
Due to its X-linked inheritance pattern, females are typically carriers of the syndrome and may exhibit milder symptoms. However, in rare cases, females can also be affected.
Wiskott-Aldrich syndrome is associated with a wide range of clinical manifestations, including recurrent infections, bleeding disorders, autoimmune diseases, and an increased risk of certain cancers. Early diagnosis and appropriate management are crucial to improve outcomes and quality of life for affected individuals.
Although Wiskott-Aldrich syndrome is considered rare, it is important to raise awareness about this condition to facilitate early detection, genetic counseling, and appropriate medical interventions.
