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 )

Relationships
is a type of: autosomal dominant disease lung disease primary immunodeficiency disease