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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 GINS1 on chromosome 20p11.21.
https://pubmed.ncbi.nlm.nih.gov/28414293/
Xrefs

OMIM:617827

ORDO:505227

Synonyms

combined immunodeficiency due to GINS1 deficiency [EXACT]

IMD55 [EXACT]

Parent Relationships

is_a combined immunodeficiency

is_a autosomal recessive disease

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