immunodeficiency 80

info · Immune

A primary immunodeficiency disease that is characterized by variable manifestations and that has_material_basis_in compound heterozygous mutation in the MCM10 gene on chromosome 10p13.

Signs and symptoms

Decreased total T cell count
Diarrhea
Hypertriglyceridemia
Nonimmune hydrops fetalis
Right atrial enlargement
Hypofibrinogenemia
Increased circulating ferritin concentration
Decreased total B cell count
Hypoplastic spleen
Endocardial fibroelastosis

Also known as: immunodeficiency 80 with or without cautosomal recessive inheritancediomyopathy