Term Name: | immunodeficiency 115 |
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Synonyms: | immunodeficiency 115 with autoinflammation |
Definition: | A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. |
Ontology: | Human Disease [DOID:0061081] ( DOID:0061081 ) |