immunodeficiency 92

Term ID

DOID:0061062

Synonyms

Definition

A primary immunodeficiency disease that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous mutation in the REL gene on chromosome 2p16. https://pubmed.ncbi.nlm.nih.gov/34623332/

References

MIM:619652

Ontology

Human Disease ( DOID:0061062 )

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