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immunodeficiency 108 (DOID:0061077)
Alliance: disease page
Synonyms: immunodeficiency 108 with autoinflammation
Alt IDs: OMIM:260570
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory