Term Name: | common variable immunodeficiency 12 |
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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. |
Ontology: | Human Disease [DOID:0081154] ( DOID:0081154 ) |