immunodeficiency 132B

Term ID

DOID:0061097

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. https://pubmed.ncbi.nlm.nih.gov/39579173/

References

• MIM:621096

Ontology

Human Disease   ( DOID:0061097 )