Term Name: | immunodeficiency 108 |
---|---|
Synonyms: | immunodeficiency 108 with autoinflammation |
Definition: | 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. |
Ontology: | Human Disease [DOID:0061077] ( DOID:0061077 ) |