Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308771382> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W4308771382 endingPage "e195" @default.
- W4308771382 startingPage "e193" @default.
- W4308771382 abstract "Dear Editor, A Japanese baby boy with a birthweight of 2826 g was delivered at 38 weeks of gestation by vacuum delivery, without any perinatal abnormalities. However, from 5 days of age he was hospitalized more than once a month for high fever and oral ulcers. Finally, a genetic test was conducted at 4 years of age that identified a heterozygous 11-nucleotide frameshift deletion (c.1760_1770del11, p.Ala588Valfs*80) in the TNFAIP3 gene. The deletion was suspected of causing a truncated A20 protein that lacks 4 zinc finger domains functioning as a ubiquitin ligase (ZF4) and binding to linear polyubiquitin (ZF7) (Supplementary Fig. S1, available at Rheumatology online). Thus we diagnosed the patient with A20 haploinsufficiency (HA20). Based on a diagnosis of Behçet’s disease, he was treated with colchicine, steroids and TNF inhibitors (infliximab for 13 months, etanercept for 8 months, golimumab for 1 month and adalimumab for 38 months) that resulted in the temporary improvement of symptoms and findings; however, it was necessary to switch drugs as their effects weakened, probably due to the production of neutralizing antibodies. We were unable to use immunosuppressive drugs because of the patient’s peripheral blood was persistently positive for Epstein–Barr virus DNA." @default.
- W4308771382 created "2022-11-15" @default.
- W4308771382 creator A5003450722 @default.
- W4308771382 creator A5017130122 @default.
- W4308771382 creator A5019979063 @default.
- W4308771382 creator A5035468036 @default.
- W4308771382 creator A5045782440 @default.
- W4308771382 creator A5052973866 @default.
- W4308771382 creator A5081545180 @default.
- W4308771382 creator A5089406218 @default.
- W4308771382 date "2022-11-11" @default.
- W4308771382 modified "2023-09-27" @default.
- W4308771382 title "A case of A20 haploinsufficiency in which intestinal inflammation improved with thalidomide" @default.
- W4308771382 cites W1984822930 @default.
- W4308771382 cites W2011405088 @default.
- W4308771382 cites W2055621109 @default.
- W4308771382 cites W2194309244 @default.
- W4308771382 cites W2622158352 @default.
- W4308771382 cites W2792160894 @default.
- W4308771382 cites W2979047583 @default.
- W4308771382 doi "https://doi.org/10.1093/rheumatology/keac634" @default.
- W4308771382 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36367251" @default.
- W4308771382 hasPublicationYear "2022" @default.
- W4308771382 type Work @default.
- W4308771382 citedByCount "0" @default.
- W4308771382 crossrefType "journal-article" @default.
- W4308771382 hasAuthorship W4308771382A5003450722 @default.
- W4308771382 hasAuthorship W4308771382A5017130122 @default.
- W4308771382 hasAuthorship W4308771382A5019979063 @default.
- W4308771382 hasAuthorship W4308771382A5035468036 @default.
- W4308771382 hasAuthorship W4308771382A5045782440 @default.
- W4308771382 hasAuthorship W4308771382A5052973866 @default.
- W4308771382 hasAuthorship W4308771382A5081545180 @default.
- W4308771382 hasAuthorship W4308771382A5089406218 @default.
- W4308771382 hasConcept C104317684 @default.
- W4308771382 hasConcept C126322002 @default.
- W4308771382 hasConcept C127716648 @default.
- W4308771382 hasConcept C185592680 @default.
- W4308771382 hasConcept C187212893 @default.
- W4308771382 hasConcept C198451711 @default.
- W4308771382 hasConcept C203014093 @default.
- W4308771382 hasConcept C2777178219 @default.
- W4308771382 hasConcept C2779134260 @default.
- W4308771382 hasConcept C55493867 @default.
- W4308771382 hasConcept C68838962 @default.
- W4308771382 hasConcept C71924100 @default.
- W4308771382 hasConcept C90924648 @default.
- W4308771382 hasConceptScore W4308771382C104317684 @default.
- W4308771382 hasConceptScore W4308771382C126322002 @default.
- W4308771382 hasConceptScore W4308771382C127716648 @default.
- W4308771382 hasConceptScore W4308771382C185592680 @default.
- W4308771382 hasConceptScore W4308771382C187212893 @default.
- W4308771382 hasConceptScore W4308771382C198451711 @default.
- W4308771382 hasConceptScore W4308771382C203014093 @default.
- W4308771382 hasConceptScore W4308771382C2777178219 @default.
- W4308771382 hasConceptScore W4308771382C2779134260 @default.
- W4308771382 hasConceptScore W4308771382C55493867 @default.
- W4308771382 hasConceptScore W4308771382C68838962 @default.
- W4308771382 hasConceptScore W4308771382C71924100 @default.
- W4308771382 hasConceptScore W4308771382C90924648 @default.
- W4308771382 hasIssue "6" @default.
- W4308771382 hasLocation W43087713821 @default.
- W4308771382 hasLocation W43087713822 @default.
- W4308771382 hasOpenAccess W4308771382 @default.
- W4308771382 hasPrimaryLocation W43087713821 @default.
- W4308771382 hasRelatedWork W2046399730 @default.
- W4308771382 hasRelatedWork W2093580598 @default.
- W4308771382 hasRelatedWork W2094487417 @default.
- W4308771382 hasRelatedWork W2558297493 @default.
- W4308771382 hasRelatedWork W2622204852 @default.
- W4308771382 hasRelatedWork W2736593664 @default.
- W4308771382 hasRelatedWork W3009988893 @default.
- W4308771382 hasRelatedWork W3209686377 @default.
- W4308771382 hasRelatedWork W4237592206 @default.
- W4308771382 hasRelatedWork W4255039225 @default.
- W4308771382 hasVolume "62" @default.
- W4308771382 isParatext "false" @default.
- W4308771382 isRetracted "false" @default.
- W4308771382 workType "article" @default.