OBO ID: DOID:0111982
Term Name: immunodeficiency 56 Search Ontology:
Synonyms:
  • combined immunodeficiency due to IL21R deficiency
  • IL21R immunodeficiency
  • IMD56
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 IL21R on chromosome 16p12.1. https://pubmed.ncbi.nlm.nih.gov/23440042/
References:
Ontology: Human Disease   (DOID:0111982)
OTHER immunodeficiency 56 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL21R Immunodeficiency 56 615207
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None