ZFIN Human Disease: immunodeficiency 56

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 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 )

Relationships

is a type of:	autosomal recessive disease combined T cell and B cell immunodeficiency autosomal recessive disease combined T cell and B cell immunodeficiency Show first 5 Terms

OTHER immunodeficiency 56 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IL21R	il21r.1 il21r.2	Immunodeficiency 56	615207

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None