Search Ontology:
Human Disease

immunodeficiency 56

Term ID
DOID:0111982
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 the IL21R gene on chromosome 16p12.1. https://pubmed.ncbi.nlm.nih.gov/23440042/
References
Ontology
Human Disease   ( DOID:0111982 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models