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immunodeficiency 46
Summary
- Synonym
-
- CID due to TFRC deficiency
- IMD46
- TFRC-related combined immunodeficiency
- combined immunodeficiency due to TFRC deficiency
- 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.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111948
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
