Term Name: | immunodeficiency 55 |
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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 ) |