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Summary Literature (0)
DOID:0111982 - immunodeficiency 56

Disease Ontology 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.

Synonyms: IL21R immunodeficiency, IMD56, combined immunodeficiency due to IL21R deficiency,

Xenbase Genes : il21r



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined T cell and B cell immunodeficiency (is_a)