OBO ID: DOID:0111948
Term Name: immunodeficiency 46 Search Ontology:
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 TFRC on chromosome 3q29. https://pubmed.ncbi.nlm.nih.gov/26642240/
References:
Ontology: Human Disease   (DOID:0111948)
OTHER immunodeficiency 46 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TFRC Immunodeficiency 46 616740
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None