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common variable immunodeficiency 13
Summary
- 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.
- Super Class
- autosomal dominant disease common variable immunodeficiency
External Links
- Disease Ontology
- DOID:0081155
- Mondo Disease Ontology
- OMIM
