Term Name: immunodeficiency 56
Synonyms: combined immunodeficiency due to IL21R deficiency, IL21R immunodeficiency, IMD56
Definition: A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1.
Ontology: Human Disease [DOID:0111982]   ( DOID:0111982 )

Relationships
is a type of: autosomal recessive disease combined T cell and B cell immunodeficiency