immunodeficiency 46 (DOID:0111948)
Alliance: disease page
Synonyms: CID due to TFRC deficiency; combined immunodeficiency due to TFRC deficiency; IMD46; TFRC-related combined immunodeficiency
Alt IDs: OMIM:616740, ORDO:476113, UMLS_CUI:C5568133
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.