Term Name: | immunodeficiency 122 |
---|---|
Synonyms: | |
Definition: | A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0061088] ( DOID:0061088 ) |