Mondo Description Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.

Uniprot Description A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers.