Term Name: | immunodeficiency 120 |
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Synonyms: | |
Definition: | A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0061086] ( DOID:0061086 ) |