Term Name: immunodeficiency 132B
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 )

Relationships
is a type of: autosomal dominant disease primary immunodeficiency disease