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

• OMIM:615207
• ORDO:357329
• UMLS_CUI:C3554687

Ontology

Human Disease   ( DOID:0111982 )