Term Name: | immunodeficiency 18 |
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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 ) |