immunodeficiency 55 (DOID:0111993)
Alliance: disease page
Synonyms: combined immunodeficiency due to GINS1 deficiency; IMD55
Alt IDs: OMIM:617827, ORDO:505227
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.