immunodeficiency 100

A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24.

Signs and symptoms

• Decreased circulating immunoglobulin concentration
• Intraalveolar phospholipid accumulation
• Respiratory insufficiency
• Recurrent respiratory infections
• Splenomegaly
• Increased total leukocyte count

Also known as: immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia