has material basis in germline mutation in MCM4 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency https://www.malacards.org/card/immunodeficiency_54 GARD:0016695 UMLS:C1864947 NKGCD MESH:C566492 DOID:0111967 primary immunodeficiency due to MCM4 deficiency mini-chromosome maintenance 4 MEDGEN:351256 NANDO:2200771 MONDO:0012383 Orphanet:75391 SCTID:724275005 The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21. natural KILLER cell and glucocorticoid deficiency with DNA repair defect IMD54 NCIT:C123729 OMIM:609981 immunodeficiency disease