Immunodeficiency 80 with or without congenital cardiomyopathy
Immunodeficiency 80 with or without congenital cardiomyopathy
Definition
An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.
Also known as IMD80, immunodeficiency 80 with or without cardiomyopathy, immunodeficiency 80 with or without congenital cardiomyopathy, immunodeficiency with or without congenital cardiomyopathy, MCM10 deficiency — per MONDO