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Metadata
ID	DOID:0111993
Name	immunodeficiency 55
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. https://pubmed.ncbi.nlm.nih.gov/28414293/
Xrefs	OMIM:617827 ORDO:505227
Subsets	DO_rare_slim
Synonyms	combined immunodeficiency due to GINS1 deficiency [EXACT] IMD55 [EXACT]
Parent Relationships	is_a combined immunodeficiency is_a autosomal recessive disease