Term Name: immunodeficiency 128
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 )

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