Term Name: immunodeficiency 115
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 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease