Term Name: immunodeficiency 18
Synonyms: CD3-epsilon deficiency, IMD18
Definition: A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.
Ontology: Human Disease [DOID:0111971]   ( DOID:0111971 )

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