immunodeficiency 108

A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homoz

A primary immunodeficiency disease that is characterized mainly by autoinflammation, often manifest as onset of recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers around adolescence and that has_material_basis_in homozygous mutation in the CEBPE gene on chromosome 14q11.

Signs and symptoms

• Paronychia
• Recurrent fever
• Recurrent abscess formation
• Epistaxis
• Impaired neutrophil chemotaxis
• Abdominal pain
• Recurrent aphthous stomatitis
• Hyposegmentation of neutrophil nuclei

Also known as: immunodeficiency 108 with autoinflammation