Term Name: | immunodeficiency 128 |
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Synonyms: | |
Definition: | A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. |
Ontology: | Human Disease [DOID:0061093] ( DOID:0061093 ) |