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Metadata
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

MIM:621097

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

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