Metadata | |
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ID | DOID:0081154 |
Name | common variable immunodeficiency 12 |
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/ |
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