Human genes for immunodeficiency 54
Immunodeficiency 54 [DOID:0111967]
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 MCM4 on chromosome 8q11.21.
Synonyms: immunodeficiency 54, DOID:0111967, familial isolated natural killer cell deficiency, IMD54, NKCD ...