Term Name: | immunodeficiency 84 |
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Synonyms: | |
Definition: | A primary immunodeficiency disease that is characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development and that has_material_basis_in heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. |
Ontology: | Human Disease [DOID:0061054] ( DOID:0061054 ) |