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 )

Relationships
is a type of: autosomal recessive disease T cell, B cell, and NK cell deficiency