Metadata | |
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ID | DOID:0061125 |
Name | immunodeficiency 131 |
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. https://pubmed.ncbi.nlm.nih.gov/36917008/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant disease is_a primary immunodeficiency disease is_a lung disease |
Subclass Logical Relationships |
disease has location some lung existence starts during some Infantile onset has material basis in some autosomal dominant inheritance |