immunodeficiency 54 (DOID:0111967)
Alliance: disease page
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
Alt IDs: OMIM:609981, MESH:C566492, NCI:C123729, ORDO:75391, UMLS_CUI:C1864947
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.