| Metadata | |
|---|---|
| ID | DOID:0111982 |
| Name | immunodeficiency 56 |
| Definition | A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. https://pubmed.ncbi.nlm.nih.gov/23440042/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined immunodeficiency due to IL21R deficiency [EXACT] IL21R immunodeficiency [EXACT] IMD56 [EXACT] |
| Parent Relationships |