Term Name:	immunodeficiency 46
Synonyms:	CID due to TFRC deficiency, combined immunodeficiency due to TFRC deficiency, IMD46, TFRC-related combined immunodeficiency
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.
Ontology:	Human Disease [DOID:0111948]   ( DOID:0111948 )