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Summary Literature (0)
DOID:0111948 - immunodeficiency 46

Disease Ontology Definition:A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.

Synonyms: CID due to TFRC deficiency, combined immunodeficiency due to TFRC deficiency, IMD46, TFRC-related combined immunodeficiency

Xenbase Genes : tfrc


MIM:
MIM:616740 - IMMUNODEFICIENCY 46; IMD46

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)