Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007994311> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2007994311 endingPage "587" @default.
- W2007994311 startingPage "583" @default.
- W2007994311 abstract "Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder characterized by chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and primary adrenal insufficiency. It has recently been associated with mutations of a single gene found on chromosome 21, designated AutoImmune Regulator (AIRE). We report two patients with APS-1 referred to our hospital for evaluation. The first patient was an 11-year-old girl with hypoparathyroidism, infectious or immunological malabsorption, and autoimmune hepatitis. Hypoparathyroidism associated with other processes with a probable autoimmune origin suggested APS-1. Genetic study was performed revealing deletion of 13 base pairs in exon 8 of the AIRE gene. The second patient was a 17-year-old girl with autoimmune hepatitis, hypoparathyroidism, mucocutaneous candidiasis, nail dystrophy, and obliterating bronchiolitis with a probable autoimmune origin. We suspected APS-1 and genetic study was performed. The only finding was an AIRE gene polymorphism. In conclusion, the presence of a single disease criterion is sufficient to suspect APS-1 and to indicate genetic study. Further studies are required to confirm the involvement of other genes in the development of this disease." @default.
- W2007994311 created "2016-06-24" @default.
- W2007994311 creator A5017150360 @default.
- W2007994311 creator A5019383270 @default.
- W2007994311 creator A5049274314 @default.
- W2007994311 creator A5053520153 @default.
- W2007994311 creator A5057856709 @default.
- W2007994311 date "2006-06-01" @default.
- W2007994311 modified "2023-09-27" @default.
- W2007994311 title "Mutación del gen AIRE en el síndrome poliglandular tipo I" @default.
- W2007994311 cites W1971185090 @default.
- W2007994311 cites W1979133688 @default.
- W2007994311 cites W1989755312 @default.
- W2007994311 cites W2003825601 @default.
- W2007994311 cites W2016265097 @default.
- W2007994311 cites W2017421022 @default.
- W2007994311 cites W2028222510 @default.
- W2007994311 cites W2039449653 @default.
- W2007994311 cites W2059969224 @default.
- W2007994311 cites W2062269500 @default.
- W2007994311 cites W2082966751 @default.
- W2007994311 cites W2083737302 @default.
- W2007994311 cites W2088697740 @default.
- W2007994311 cites W2162676892 @default.
- W2007994311 cites W2163767652 @default.
- W2007994311 cites W2331919277 @default.
- W2007994311 cites W2755302986 @default.
- W2007994311 doi "https://doi.org/10.1157/13089925" @default.
- W2007994311 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16792967" @default.
- W2007994311 hasPublicationYear "2006" @default.
- W2007994311 type Work @default.
- W2007994311 sameAs 2007994311 @default.
- W2007994311 citedByCount "8" @default.
- W2007994311 countsByYear W20079943112012 @default.
- W2007994311 countsByYear W20079943112015 @default.
- W2007994311 countsByYear W20079943112017 @default.
- W2007994311 countsByYear W20079943112020 @default.
- W2007994311 crossrefType "journal-article" @default.
- W2007994311 hasAuthorship W2007994311A5017150360 @default.
- W2007994311 hasAuthorship W2007994311A5019383270 @default.
- W2007994311 hasAuthorship W2007994311A5049274314 @default.
- W2007994311 hasAuthorship W2007994311A5053520153 @default.
- W2007994311 hasAuthorship W2007994311A5057856709 @default.
- W2007994311 hasConcept C126322002 @default.
- W2007994311 hasConcept C142724271 @default.
- W2007994311 hasConcept C159654299 @default.
- W2007994311 hasConcept C203014093 @default.
- W2007994311 hasConcept C2775941721 @default.
- W2007994311 hasConcept C2776029263 @default.
- W2007994311 hasConcept C2776422140 @default.
- W2007994311 hasConcept C2776566471 @default.
- W2007994311 hasConcept C2777203481 @default.
- W2007994311 hasConcept C2779075594 @default.
- W2007994311 hasConcept C2779134260 @default.
- W2007994311 hasConcept C2780130043 @default.
- W2007994311 hasConcept C54355233 @default.
- W2007994311 hasConcept C71924100 @default.
- W2007994311 hasConcept C86803240 @default.
- W2007994311 hasConceptScore W2007994311C126322002 @default.
- W2007994311 hasConceptScore W2007994311C142724271 @default.
- W2007994311 hasConceptScore W2007994311C159654299 @default.
- W2007994311 hasConceptScore W2007994311C203014093 @default.
- W2007994311 hasConceptScore W2007994311C2775941721 @default.
- W2007994311 hasConceptScore W2007994311C2776029263 @default.
- W2007994311 hasConceptScore W2007994311C2776422140 @default.
- W2007994311 hasConceptScore W2007994311C2776566471 @default.
- W2007994311 hasConceptScore W2007994311C2777203481 @default.
- W2007994311 hasConceptScore W2007994311C2779075594 @default.
- W2007994311 hasConceptScore W2007994311C2779134260 @default.
- W2007994311 hasConceptScore W2007994311C2780130043 @default.
- W2007994311 hasConceptScore W2007994311C54355233 @default.
- W2007994311 hasConceptScore W2007994311C71924100 @default.
- W2007994311 hasConceptScore W2007994311C86803240 @default.
- W2007994311 hasIssue "6" @default.
- W2007994311 hasLocation W20079943111 @default.
- W2007994311 hasLocation W20079943112 @default.
- W2007994311 hasOpenAccess W2007994311 @default.
- W2007994311 hasPrimaryLocation W20079943111 @default.
- W2007994311 hasRelatedWork W1623257796 @default.
- W2007994311 hasRelatedWork W1919722986 @default.
- W2007994311 hasRelatedWork W1967655497 @default.
- W2007994311 hasRelatedWork W1973636901 @default.
- W2007994311 hasRelatedWork W2016840028 @default.
- W2007994311 hasRelatedWork W2060918764 @default.
- W2007994311 hasRelatedWork W2074776029 @default.
- W2007994311 hasRelatedWork W2467109376 @default.
- W2007994311 hasRelatedWork W3196110862 @default.
- W2007994311 hasRelatedWork W4310071605 @default.
- W2007994311 hasVolume "64" @default.
- W2007994311 isParatext "false" @default.
- W2007994311 isRetracted "false" @default.
- W2007994311 magId "2007994311" @default.
- W2007994311 workType "article" @default.