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| Term | immunodeficiency 46 | ID (Ontology) | DOID:0111948 (Human Disease) |
| 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. | ||
| Also Known As | "CID due to TFRC deficiency" ; "combined immunodeficiency due to TFRC deficiency" ; "IMD46" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease__________________ combined immunodeficiency | |__combined T cell and B cell immunodeficiency__| immunodeficiency 46 |
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| Is a |
autosomal recessive disease combined T cell and B cell immunodeficiency |
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MIM:616740 ORDO:476113 SNOMEDCT_US_2023_09_01:1179288008 UMLS_CUI:C5568133 |
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