Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

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.

Also known as: mini-chromosome maintenance 4, primary immunodeficiency due to MCM4 deficiency, IMD54, NKGCD, immunodeficiency 54, natural KILLER cell and glucocorticoid deficiency with DNA repair defect, natural Killer cell deficiency, familial isolated

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