Term Name: immunodeficiency 120
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 )

Relationships
is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency