Matches in SemOpenAlex for { <https://semopenalex.org/work/W2596001842> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W2596001842 endingPage "2" @default.
- W2596001842 startingPage "1" @default.
- W2596001842 abstract "Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in the gene ACP5, which encodes tartrate resistant acid phosphatase (TRAP). I will present data pertaining to the recognized skeletal, neurological and immune phenotypes, most particularly the immune manifestations. In a recent analysis of 26 patients, 22 manifested clinical autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus and further two demonstrated positive autoantibodies. In the majority of patients tested we detected up-regulated expression of interferon stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein TRAP. Two mutation positive patients did not demonstrate an up-regulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy perhaps demonstrating a useful treatment for the autoimmune manifestations. Of further note recurrent bacterial and viral infections were reported in five of 26 patients, raising the suggestion that immunodeficiency is a part of ACP5-associated disease" @default.
- W2596001842 created "2017-03-23" @default.
- W2596001842 creator A5013758087 @default.
- W2596001842 creator A5046909004 @default.
- W2596001842 creator A5070880517 @default.
- W2596001842 creator A5073370746 @default.
- W2596001842 date "2017-01-07" @default.
- W2596001842 modified "2023-10-11" @default.
- W2596001842 title "The autoimmune and immunodeficiency manifestations of ACP5 mutations" @default.
- W2596001842 hasPublicationYear "2017" @default.
- W2596001842 type Work @default.
- W2596001842 sameAs 2596001842 @default.
- W2596001842 citedByCount "0" @default.
- W2596001842 crossrefType "journal-article" @default.
- W2596001842 hasAuthorship W2596001842A5013758087 @default.
- W2596001842 hasAuthorship W2596001842A5046909004 @default.
- W2596001842 hasAuthorship W2596001842A5070880517 @default.
- W2596001842 hasAuthorship W2596001842A5073370746 @default.
- W2596001842 hasConcept C104317684 @default.
- W2596001842 hasConcept C126322002 @default.
- W2596001842 hasConcept C127716648 @default.
- W2596001842 hasConcept C159654299 @default.
- W2596001842 hasConcept C163764329 @default.
- W2596001842 hasConcept C203014093 @default.
- W2596001842 hasConcept C2776912625 @default.
- W2596001842 hasConcept C2777607303 @default.
- W2596001842 hasConcept C2779075594 @default.
- W2596001842 hasConcept C2779134260 @default.
- W2596001842 hasConcept C2780130043 @default.
- W2596001842 hasConcept C2780194698 @default.
- W2596001842 hasConcept C501734568 @default.
- W2596001842 hasConcept C54355233 @default.
- W2596001842 hasConcept C71924100 @default.
- W2596001842 hasConcept C86803240 @default.
- W2596001842 hasConcept C8891405 @default.
- W2596001842 hasConceptScore W2596001842C104317684 @default.
- W2596001842 hasConceptScore W2596001842C126322002 @default.
- W2596001842 hasConceptScore W2596001842C127716648 @default.
- W2596001842 hasConceptScore W2596001842C159654299 @default.
- W2596001842 hasConceptScore W2596001842C163764329 @default.
- W2596001842 hasConceptScore W2596001842C203014093 @default.
- W2596001842 hasConceptScore W2596001842C2776912625 @default.
- W2596001842 hasConceptScore W2596001842C2777607303 @default.
- W2596001842 hasConceptScore W2596001842C2779075594 @default.
- W2596001842 hasConceptScore W2596001842C2779134260 @default.
- W2596001842 hasConceptScore W2596001842C2780130043 @default.
- W2596001842 hasConceptScore W2596001842C2780194698 @default.
- W2596001842 hasConceptScore W2596001842C501734568 @default.
- W2596001842 hasConceptScore W2596001842C54355233 @default.
- W2596001842 hasConceptScore W2596001842C71924100 @default.
- W2596001842 hasConceptScore W2596001842C86803240 @default.
- W2596001842 hasConceptScore W2596001842C8891405 @default.
- W2596001842 hasIssue "4" @default.
- W2596001842 hasLocation W25960018421 @default.
- W2596001842 hasOpenAccess W2596001842 @default.
- W2596001842 hasPrimaryLocation W25960018421 @default.
- W2596001842 hasRelatedWork W169061709 @default.
- W2596001842 hasRelatedWork W1975296669 @default.
- W2596001842 hasRelatedWork W1985658250 @default.
- W2596001842 hasRelatedWork W1989604716 @default.
- W2596001842 hasRelatedWork W2013231478 @default.
- W2596001842 hasRelatedWork W2066680466 @default.
- W2596001842 hasRelatedWork W2072332251 @default.
- W2596001842 hasRelatedWork W2080574797 @default.
- W2596001842 hasRelatedWork W2122318561 @default.
- W2596001842 hasRelatedWork W2154757961 @default.
- W2596001842 hasRelatedWork W2321356159 @default.
- W2596001842 hasRelatedWork W2503696107 @default.
- W2596001842 hasRelatedWork W2547913572 @default.
- W2596001842 hasRelatedWork W2748190516 @default.
- W2596001842 hasRelatedWork W2885657430 @default.
- W2596001842 hasRelatedWork W2953922461 @default.
- W2596001842 hasRelatedWork W3105823437 @default.
- W2596001842 hasRelatedWork W3205340334 @default.
- W2596001842 hasRelatedWork W37321379 @default.
- W2596001842 hasRelatedWork W46306016 @default.
- W2596001842 hasVolume "4" @default.
- W2596001842 isParatext "false" @default.
- W2596001842 isRetracted "false" @default.
- W2596001842 magId "2596001842" @default.
- W2596001842 workType "article" @default.