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Echinobase
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: IMD16, OX40 deficiency, 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,

Echinobase Genes :



Other Model Organisms: AGR, 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)