immunodeficiency 18

Term ID

DOID:0111971

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. (2)

References

• OMIM:615615

Ontology

Human Disease   ( DOID:0111971 )