severe congenital neutropenia 1

A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13.

Signs and symptoms

• Increased total eosinophil count
• Thrombocytosis
• Increased total monocyte count
• Growth abnormality
• Congenital agranulocytosis
• Anemia
• Recurrent bacterial infections
• Increased circulating immunoglobulin concentration
• Acute monocytic leukemia
• Decreased total neutrophil count