Term Name:	immunodeficiency 54
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.
Ontology:	Human Disease [DOID:0111967]   ( DOID:0111967 )