Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 54
DOID:0111967
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 54

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.
Synonyms
  • familial isolated natural killer cell deficiency
  • IMD54
Cross References
Parent Terms
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None
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