Search Ontology:
Human Disease

immunodeficiency 46

Term ID
DOID:0111948
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. https://pubmed.ncbi.nlm.nih.gov/26642240/
References
  • MIM:616740
  • ORDO:476113
  • SNOMEDCT_US_2023_09_01:1179288008
  • UMLS_CUI:C5568133
Ontology
Human Disease   ( DOID:0111948 )
Relationships
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Genes Involved
Zebrafish Models