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

• OMIM:616740
• ORDO:476113
• SNOMEDCT_US_2023_09_01:1179288008
• UMLS_CUI:C5568133

Ontology

Human Disease   ( DOID:0111948 )