Term Name: | immunodeficiency 131 |
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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 ) |