immunodeficiency 95

Term ID

DOID:0061065

Synonyms

Definition

A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. https://pubmed.ncbi.nlm.nih.gov/34185153/

References

MIM:619773

Ontology

Human Disease ( DOID:0061065 )

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