ZFIN Human Disease: immunodeficiency 16

OBO ID: DOID:0111935

Term Name:	immunodeficiency 16		Search Ontology:
Synonyms:	combined immunodeficiency due to OX40 deficiency combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8 IMD16 OX40 deficiency
Definition:	A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. (2)
References:	OMIM:615593 ORDO:431149 UMLS_CUI:C3810053
Ontology:	Human Disease ( DOID:0111935 )

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 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TNFRSF4		?Immunodeficiency 16

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None