Term Name: immunodeficiency 82
Synonyms: immunodeficiency 82 with systemic inflammation
Definition: A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22.
Ontology: Human Disease [DOID:0061053]   ( DOID:0061053 )

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