immunodeficiency 96

Term ID

DOID:0061066

Synonyms

Definition

A primary immunodeficiency disease that is characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/30395541/

References

MIM:619774

Ontology

Human Disease ( DOID:0061066 )

Relationships

is a type of: autosomal recessive disease primary immunodeficiency disease

autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models