{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Byun M"],"funding":["NCATS NIH HHS","NIAID NIH HHS","NCI NIH HHS"],"pagination":["1743-59"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3754857"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["210(9)"],"pubmed_abstract":["Kaposi sarcoma (KS), a human herpes virus 8 (HHV-8; also called KSHV)-induced endothelial tumor, develops only in a small fraction of individuals infected with HHV-8. We hypothesized that inborn errors of immunity to HHV-8 might underlie the exceedingly rare development of classic KS in childhood. We report here autosomal recessive OX40 deficiency in an otherwise healthy adult with childhood-onset classic KS. OX40 is a co-stimulatory receptor expressed on activated T cells. Its ligand, OX40L, is expressed on various cell types, including endothelial cells. We found OX40L was abundantly expressed in KS lesions. The mutant OX40 protein was poorly expressed on the cell surface and failed to bind OX40L, resulting in complete functional OX40 deficiency. The patient had a low proportion of effec"],"journal":["The Journal of experimental medicine"],"pubmed_title":["Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood."],"pmcid":["PMC3754857"],"funding_grant_id":["R01 AI035237","UL1 TR000043","R01CA103646","8UL1TR000043","R21 AI035237","R01 CA154228","R01 CA103646","R01CA154228"],"pubmed_authors":["Byun M","Picard C","Olivier M","Gessain A","Myoung J","Cesarman E","Liu Y","Schmidt M","Cassar O","Canpolat N","Jouanguy E","Lim HK","Palendira U","Fleckenstein B","Akcay A","Lorenzo L","Migaud M","Abel L","Casanova JL","Tangye SG","Croft M","Pedergnana V","Abhyankar A","Ma CS","Aydogan G","Avery DT","Rozenberg F","Gros P","Bustamante J"],"additional_accession":[]},"is_claimable":false,"name":"Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood.","description":"Kaposi sarcoma (KS), a human herpes virus 8 (HHV-8; also called KSHV)-induced endothelial tumor, develops only in a small fraction of individuals infected with HHV-8. We hypothesized that inborn errors of immunity to HHV-8 might underlie the exceedingly rare development of classic KS in childhood. We report here autosomal recessive OX40 deficiency in an otherwise healthy adult with childhood-onset classic KS. OX40 is a co-stimulatory receptor expressed on activated T cells. Its ligand, OX40L, is expressed on various cell types, including endothelial cells. We found OX40L was abundantly expressed in KS lesions. The mutant OX40 protein was poorly expressed on the cell surface and failed to bind OX40L, resulting in complete functional OX40 deficiency. The patient had a low proportion of effec","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Aug","modification":"2026-05-30T06:19:48.65Z","creation":"2026-04-08T06:41:39.171Z"},"accession":"S-EPMC3754857","cross_references":{"pubmed":["23897980"],"doi":["10.1084/jem.20130592"]}}