Term Name: immunodeficiency 114
Synonyms: folate-responsive immunodeficiency 114
Definition: 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.
Ontology: Human Disease [DOID:0061080]   ( DOID:0061080 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease