Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0111935 - immunodeficiency 16

Disease Ontology 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.

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

Xenbase Genes : tnfrsf4


MIM:
MIM:615593 - IMMUNODEFICIENCY 16; IMD16

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined T cell and B cell immunodeficiency (is_a)