OBO ID: DOID:0111967
Term Name: immunodeficiency 54 Search Ontology:
Synonyms:
  • familial isolated natural killer cell deficiency
  • IMD54
  • NKCD
  • 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. (2)
References:
Ontology: Human Disease   ( DOID:0111967 )
Relationships
is a type of:
OTHER immunodeficiency 54 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MCM4 Immunodeficiency 54 609981
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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