immunodeficiency 108

Term ID

DOID:0061077

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. https://pubmed.ncbi.nlm.nih.gov/31201888/

References

• MIM:260570

Ontology

Human Disease   ( DOID:0061077 )