common variable immunodeficiency 13

Term ID

DOID:0081155

Synonyms

Definition

A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. https://pubmed.ncbi.nlm.nih.gov/26981933/

References

• MIM:616873

Ontology

Human Disease   ( DOID:0081155 )