common variable immunodeficiency 12

Term ID

DOID:0081154

Synonyms

Definition

A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. https://pubmed.ncbi.nlm.nih.gov/32278790/

References

• OMIM:616576

Ontology

Human Disease   ( DOID:0081154 )