| 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 | |
| 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 |