Term Name:	immunodeficiency 55
Synonyms:	combined immunodeficiency due to GINS1 deficiency, IMD55
Definition:	A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
Ontology:	Human Disease [DOID:0111993]   ( DOID:0111993 )