immunodeficiency 54

Term ID

DOID:0111967

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

• MESH:C566492
• MIM:609981
• NCI:C123729
• ORDO:75391
• UMLS_CUI:C1864947

Ontology

Human Disease   ( DOID:0111967 )