immunodeficiency 18 (DOID:0111971)
Alliance: disease page
Synonyms: CD3-epsilon deficiency; IMD18
Alt IDs: OMIM:615615
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.