| Metadata | |
|---|---|
| ID | DOID:0111967 |
| Name | immunodeficiency 54 |
| Definition | A NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. https://pubmed.ncbi.nlm.nih.gov/22354167/, https://pubmed.ncbi.nlm.nih.gov/16532402/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial isolated natural killer cell deficiency [EXACT] IMD54 [EXACT] NKCD [EXACT] primary immunodeficiency due to MCM4 deficiency [EXACT] primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [EXACT] |
| Parent Relationships |
is_a NK cell deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |