Matches in SemOpenAlex for { <https://semopenalex.org/work/W2071330752> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2071330752 endingPage "241" @default.
- W2071330752 startingPage "237" @default.
- W2071330752 abstract "Hyper-IgM syndromes (HIGM) are characterized by low levels of IgG, IgA and IgE and normal to high levels of IgM. Patients with these syndromes present recurrent infections due to an impaired immunoglobulin maturation. The most prevalent form of HIGM, X-linked hyper IgM syndrome (XHIM), is caused by mutations in the gene encoding the CD40 ligand (CD40LG). We present two siblings with XHIM caused by a large CD40LG deletion affecting more than half of the gene, and extended from the end of intron 3 to far upstream of the promoter regions. Genetic analysis in the maternal family discovered the CD40LG219R polymorphism in several members. Segregation of this polymorphism in the kindred indicated that the deletion of CD40LG was a de novo mutation in the mother. Although half of her CD4+ T cells did not express CD40L and the other half expressed the CD40LG219R variant, the mother was healthy. This suggests that this polymorphism is not pathogenic by itself although it has been recently related to X-linked lymphoproliferative syndrome." @default.
- W2071330752 created "2016-06-24" @default.
- W2071330752 creator A5004559136 @default.
- W2071330752 creator A5033837249 @default.
- W2071330752 creator A5035483947 @default.
- W2071330752 creator A5042038610 @default.
- W2071330752 date "2012-10-01" @default.
- W2071330752 modified "2023-10-16" @default.
- W2071330752 title "The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: Conclusions from a X-linked hyper IgM syndrome kindred" @default.
- W2071330752 cites W1208069797 @default.
- W2071330752 cites W1528551608 @default.
- W2071330752 cites W1983795855 @default.
- W2071330752 cites W1986141773 @default.
- W2071330752 cites W1987653378 @default.
- W2071330752 cites W1989305940 @default.
- W2071330752 cites W2002043709 @default.
- W2071330752 cites W2008489452 @default.
- W2071330752 cites W2015897818 @default.
- W2071330752 cites W2028895629 @default.
- W2071330752 cites W2035753711 @default.
- W2071330752 cites W2042043269 @default.
- W2071330752 cites W2076820280 @default.
- W2071330752 cites W2086447561 @default.
- W2071330752 cites W2102572112 @default.
- W2071330752 cites W2106134589 @default.
- W2071330752 cites W2115016218 @default.
- W2071330752 cites W2129841423 @default.
- W2071330752 cites W2135118987 @default.
- W2071330752 cites W2145989994 @default.
- W2071330752 cites W2152231606 @default.
- W2071330752 doi "https://doi.org/10.1016/j.molimm.2012.06.002" @default.
- W2071330752 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22750225" @default.
- W2071330752 hasPublicationYear "2012" @default.
- W2071330752 type Work @default.
- W2071330752 sameAs 2071330752 @default.
- W2071330752 citedByCount "3" @default.
- W2071330752 countsByYear W20713307522013 @default.
- W2071330752 countsByYear W20713307522019 @default.
- W2071330752 countsByYear W20713307522022 @default.
- W2071330752 crossrefType "journal-article" @default.
- W2071330752 hasAuthorship W2071330752A5004559136 @default.
- W2071330752 hasAuthorship W2071330752A5033837249 @default.
- W2071330752 hasAuthorship W2071330752A5035483947 @default.
- W2071330752 hasAuthorship W2071330752A5042038610 @default.
- W2071330752 hasConcept C104317684 @default.
- W2071330752 hasConcept C141105273 @default.
- W2071330752 hasConcept C154317977 @default.
- W2071330752 hasConcept C159654299 @default.
- W2071330752 hasConcept C202751555 @default.
- W2071330752 hasConcept C203014093 @default.
- W2071330752 hasConcept C39347974 @default.
- W2071330752 hasConcept C54355233 @default.
- W2071330752 hasConcept C86803240 @default.
- W2071330752 hasConceptScore W2071330752C104317684 @default.
- W2071330752 hasConceptScore W2071330752C141105273 @default.
- W2071330752 hasConceptScore W2071330752C154317977 @default.
- W2071330752 hasConceptScore W2071330752C159654299 @default.
- W2071330752 hasConceptScore W2071330752C202751555 @default.
- W2071330752 hasConceptScore W2071330752C203014093 @default.
- W2071330752 hasConceptScore W2071330752C39347974 @default.
- W2071330752 hasConceptScore W2071330752C54355233 @default.
- W2071330752 hasConceptScore W2071330752C86803240 @default.
- W2071330752 hasIssue "3-4" @default.
- W2071330752 hasLocation W20713307521 @default.
- W2071330752 hasLocation W20713307522 @default.
- W2071330752 hasOpenAccess W2071330752 @default.
- W2071330752 hasPrimaryLocation W20713307521 @default.
- W2071330752 hasRelatedWork W1988863520 @default.
- W2071330752 hasRelatedWork W1990472928 @default.
- W2071330752 hasRelatedWork W2028271463 @default.
- W2071330752 hasRelatedWork W202973276 @default.
- W2071330752 hasRelatedWork W2048463646 @default.
- W2071330752 hasRelatedWork W2086871979 @default.
- W2071330752 hasRelatedWork W2087982072 @default.
- W2071330752 hasRelatedWork W2165065921 @default.
- W2071330752 hasRelatedWork W2209593772 @default.
- W2071330752 hasRelatedWork W2406090265 @default.
- W2071330752 hasVolume "52" @default.
- W2071330752 isParatext "false" @default.
- W2071330752 isRetracted "false" @default.
- W2071330752 magId "2071330752" @default.
- W2071330752 workType "article" @default.