Visualize Submit Comment
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 IL21R on chromosome 16p12.1.
https://pubmed.ncbi.nlm.nih.gov/23440042/
Xrefs

OMIM:615207

ORDO:357329

UMLS_CUI:C3554687

Synonyms

combined immunodeficiency due to IL21R deficiency [EXACT]

IL21R immunodeficiency [EXACT]

IMD56 [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal recessive disease

Add an item to the term tracker