immunodeficiency 128

Term ID

DOID:0061093

Synonyms

Definition

A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/33529166/

References

MIM:620983

Ontology

Human Disease ( DOID:0061093 )

Relationships

is a type of: autosomal recessive disease T cell, B cell, and NK cell deficiency

autosomal recessive disease T cell, B cell, and NK cell deficiency Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models