immunodeficiency 114

info · Immune

A primary immunodeficiency disease that is characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy and that has_material_basis_in homozygous mutation in the SLC19A1 gene on chromosome 21q22.

Signs and symptoms

Delayed CNS myelination
Recurrent lower respiratory tract infections
Lip fissure
Megaloblastic anemia
Decreased total lymphocyte count
Decreased circulating IgG concentration
Megaloblastic bone marrow
Hypertriglyceridemia
Hypofibrinogenemia
Increased circulating ferritin concentration

Also known as: folate-responsive immunodeficiency 114