Immunodeficiency 80 with or without congenital cardiomyopathy

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, MCM10 deficiency, immunodeficiency 80 with or without cardiomyopathy, immunodeficiency 80 with or without congenital cardiomyopathy, immunodeficiency with or without congenital cardiomyopathy

0 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency 80 with or without congenital cardiomyopathy itself.