/immunodeficiency 80 with or without congenital cardiomyopathy

immunodeficiency 80 with or without congenital cardiomyopathy

MONDO:0030266

Also Known As

IMD80MCM10 deficiencyimmunodeficiency 80 with or without cardiomyopathyimmunodeficiency 80 with or without congenital cardiomyopathyimmunodeficiency 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.