| Term Name: | immunodeficiency 131 |
|---|---|
| Synonyms: | |
| Definition: | A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25. |
| Ontology: | Human Disease [DOID:0061125] ( DOID:0061125 ) |