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immunodeficiency 54
Summary
- Synonym
-
- IMD54
- NKCD
- familial isolated natural killer cell deficiency
- primary immunodeficiency due to MCM4 deficiency
- primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- Definition
- An 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.
- Super Class
- NK cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111967
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
