Metadata | |
---|---|
ID | DOID:0061097 |
Name | immunodeficiency 132B |
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. https://pubmed.ncbi.nlm.nih.gov/39579173/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal dominant inheritance |