FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2147691316> ?p ?o ?g. }

• W2147691316 abstract "The autosomal dominant (AD) hyperimmunoglobulin E syndrome (HIES, Job syndrome) is a primary immunodeficiency with multiple systemic involvements. It is characterised by grossly raised serum immunoglobulin E (IgE) level with recurrent cutaneous and pulmonary infections, eczema, pneumatocoeles, dental and musculoskeletal problems. The occurrence of the classic triads, namely recurrent cold abscesses, pneumatocoele formation and raised serum immunoglobulin E should alert the clinicians on the diagnosis of HIES. Mutations in the signal transducer and activator of transcription 3 (STAT3) gene have been identified recently to be the cause of AD HIES. We report 3 patients with HIES, in whom 2 were found to have STAT3 gene mutations." @default.
• W2147691316 created "2016-06-24" @default.
• W2147691316 creator A5004042002 @default.
• W2147691316 creator A5011800892 @default.
• W2147691316 creator A5019486435 @default.
• W2147691316 creator A5032971550 @default.
• W2147691316 creator A5035641341 @default.
• W2147691316 creator A5056275790 @default.
• W2147691316 creator A5081092016 @default.
• W2147691316 date "2009-01-01" @default.
• W2147691316 modified "2023-09-27" @default.
• W2147691316 title "Signal Transducer and Activator of Transcription 3 (STAT3) Gene Mutations in Two Patients With Hyperimmunoglobulin E Syndrome" @default.
• W2147691316 cites W1504369528 @default.
• W2147691316 cites W1931748660 @default.
• W2147691316 cites W1972868972 @default.
• W2147691316 cites W1994233311 @default.
• W2147691316 cites W2002806445 @default.
• W2147691316 cites W2024492944 @default.
• W2147691316 cites W2028116073 @default.
• W2147691316 cites W2034785432 @default.
• W2147691316 cites W2035768430 @default.
• W2147691316 cites W2046042858 @default.
• W2147691316 cites W2047148316 @default.
• W2147691316 cites W2050563366 @default.
• W2147691316 cites W2051018333 @default.
• W2147691316 cites W2060924363 @default.
• W2147691316 cites W2072109427 @default.
• W2147691316 cites W2075170692 @default.
• W2147691316 cites W2081417550 @default.
• W2147691316 cites W2084785234 @default.
• W2147691316 cites W2094036101 @default.
• W2147691316 cites W2094527741 @default.
• W2147691316 cites W2104497596 @default.
• W2147691316 cites W2125573161 @default.
• W2147691316 cites W2127447294 @default.
• W2147691316 cites W2135424108 @default.
• W2147691316 cites W2138768594 @default.
• W2147691316 cites W2162721157 @default.
• W2147691316 cites W2284078612 @default.
• W2147691316 cites W2329293925 @default.
• W2147691316 cites W3149519213 @default.
• W2147691316 hasPublicationYear "2009" @default.
• W2147691316 type Work @default.
• W2147691316 sameAs 2147691316 @default.
• W2147691316 citedByCount "0" @default.
• W2147691316 crossrefType "journal-article" @default.
• W2147691316 hasAuthorship W2147691316A5004042002 @default.
• W2147691316 hasAuthorship W2147691316A5011800892 @default.
• W2147691316 hasAuthorship W2147691316A5019486435 @default.
• W2147691316 hasAuthorship W2147691316A5032971550 @default.
• W2147691316 hasAuthorship W2147691316A5035641341 @default.
• W2147691316 hasAuthorship W2147691316A5056275790 @default.
• W2147691316 hasAuthorship W2147691316A5081092016 @default.
• W2147691316 hasConcept C104317684 @default.
• W2147691316 hasConcept C141105273 @default.
• W2147691316 hasConcept C159654299 @default.
• W2147691316 hasConcept C171958077 @default.
• W2147691316 hasConcept C203014093 @default.
• W2147691316 hasConcept C2778923194 @default.
• W2147691316 hasConcept C2779019163 @default.
• W2147691316 hasConcept C54355233 @default.
• W2147691316 hasConcept C71924100 @default.
• W2147691316 hasConcept C86803240 @default.
• W2147691316 hasConcept C8891405 @default.
• W2147691316 hasConceptScore W2147691316C104317684 @default.
• W2147691316 hasConceptScore W2147691316C141105273 @default.
• W2147691316 hasConceptScore W2147691316C159654299 @default.
• W2147691316 hasConceptScore W2147691316C171958077 @default.
• W2147691316 hasConceptScore W2147691316C203014093 @default.
• W2147691316 hasConceptScore W2147691316C2778923194 @default.
• W2147691316 hasConceptScore W2147691316C2779019163 @default.
• W2147691316 hasConceptScore W2147691316C54355233 @default.
• W2147691316 hasConceptScore W2147691316C71924100 @default.
• W2147691316 hasConceptScore W2147691316C86803240 @default.
• W2147691316 hasConceptScore W2147691316C8891405 @default.
• W2147691316 hasLocation W21476913161 @default.
• W2147691316 hasOpenAccess W2147691316 @default.
• W2147691316 hasPrimaryLocation W21476913161 @default.
• W2147691316 hasRelatedWork W1172355886 @default.
• W2147691316 hasRelatedWork W1418934525 @default.
• W2147691316 hasRelatedWork W2021126653 @default.
• W2147691316 hasRelatedWork W2024528239 @default.
• W2147691316 hasRelatedWork W2122177856 @default.
• W2147691316 hasRelatedWork W2170041146 @default.
• W2147691316 hasRelatedWork W2314299888 @default.
• W2147691316 hasRelatedWork W2395524960 @default.
• W2147691316 hasRelatedWork W2417375192 @default.
• W2147691316 hasRelatedWork W2558929272 @default.
• W2147691316 hasRelatedWork W2597870734 @default.
• W2147691316 hasRelatedWork W2624022977 @default.
• W2147691316 hasRelatedWork W2900967035 @default.
• W2147691316 hasRelatedWork W2942007584 @default.
• W2147691316 hasRelatedWork W3028887722 @default.
• W2147691316 hasRelatedWork W3032856610 @default.
• W2147691316 hasRelatedWork W3032863552 @default.
• W2147691316 hasRelatedWork W3086809188 @default.
• W2147691316 hasRelatedWork W3127882074 @default.
• W2147691316 hasRelatedWork W3183389487 @default.
• W2147691316 isParatext "false" @default.
• W2147691316 isRetracted "false" @default.

• next