Syndrome with characteristics of a specific natural-killer 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 is within a 12-Mb region on chromosome 8p11.23-q11.21.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3481761010
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
Active
Synonym
false
false
3481762015
Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency