Term Name: | immunodeficiency 132B |
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Synonyms: | |
Definition: | A primary immunodeficiency disease that is characterized by recurrent upper and lower respiratory infections caused by various pathogens beginning in childhood, B-cell lymphoid hyperplasia, and dysregulation of T-cell subsets and function and that has_material_basis_in heterozygous loss-of-function mutation in the TRAF3 gene on chromosome 14q32. |
Ontology: | Human Disease [DOID:0061097] ( DOID:0061097 ) |