| Metadata | |
|---|---|
| ID | DOID:0111948 |
| Name | immunodeficiency 46 |
| 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/ |
| Xrefs |
SNOMEDCT_US_2023_09_01:1179288008 |
| Subsets |
DO_rare_slim |
| Synonyms |
CID due to TFRC deficiency [EXACT] combined immunodeficiency due to TFRC deficiency [EXACT] IMD46 [EXACT] TFRC-related combined immunodeficiency [EXACT] |
| Parent Relationships |