immunodeficiency 132A

Term ID

DOID:0061101

Synonyms

• IMD132A

Definition

A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/36004314/

References

• MIM:614849

Ontology

Human Disease   ( DOID:0061101 )