ZFIN Human Disease: immunodeficiency with hyper IgM type 3

OBO ID: DOID:0060023

Term Name:	immunodeficiency with hyper IgM type 3		Search Ontology:
Synonyms:	CD40 deficiency HIGM3 hyper-IgM syndrome due to CD40 deficiency type 3 hyper-IgM immunodeficiency
Definition:	A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. https://www.ncbi.nlm.nih.gov/pubmed/11675497
References:	GARD:10579 NCI:C176416 OMIM:606843 ORDO:101090 UMLS_CUI:C1720957
Ontology:	Human Disease ( DOID:0060023 )

Relationships

is a type of:	autosomal recessive disease hyper IgM syndrome autosomal recessive disease hyper IgM syndrome Show first 5 Terms

OTHER immunodeficiency with hyper IgM type 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CD40	cd40	Immunodeficiency with hyper-IgM, type 3	606843

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None