Wiskott-Aldrich Syndrome

Overview
  • Wiskott-Aldrich Syndrome is caused by an inactivating mutation in the 'Wiskott-Aldrich Syndrome Protein' gene. How this mutation is connected to the diverse clinical consequences is not currently well-understood.
Clinical Consequences
  • Eczema
  • Thrombocytopenia which usually leads to a variety of bleeding disorders
  • Infection Susceptibility: Recurrent infections, especially to encapsulated bacteria as Humoral Immunity cannot generate antibodies to polysaccharide antigens
  • In most cases, patients do not survive childhood
Genetics
  • X-linked recessive