FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 54 ID (Ontology) DOID:0111967 (Human Disease)
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.
Also Known As "familial isolated natural killer cell deficiency" ; "IMD54" ; "NKCD" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 54       1
 for disease ribbon | immunodeficiency 54       1
 model of | immunodeficiency 54       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__NK cell deficiency____________|
                                  immunodeficiency 54  1 rec.
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Is a autosomal recessive disease
NK cell deficiency
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Synonyms
  • "familial isolated natural killer cell deficiency" EXACT
    "IMD54" EXACT OMO:0003012
    "NKCD" EXACT OMO:0003012
    "primary immunodeficiency due to MCM4 deficiency" EXACT
    "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" EXACT
Secondary IDs
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MESH:C566492
MIM:609981
NCI:C123729
ORDO:75391
UMLS_CUI:C1864947