immunodeficiency 114

Term ID

DOID:0061080

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. https://pubmed.ncbi.nlm.nih.gov/36517554/

References

MIM:620603

Ontology

Human Disease ( DOID:0061080 )

Relationships

is a type of: autosomal recessive disease primary immunodeficiency disease

autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models