Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
combined immunodeficiency due to GINS1 deficiency [EXACT] IMD55 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |