FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3170147603> ?p ?o ?g. }

• W3170147603 endingPage "67" @default.
• W3170147603 startingPage "56" @default.
• W3170147603 abstract "Signal transducer and activator of transcription (STAT)1 heterozygous gain-of-function (GOF) mutations are known to induce immune dysregulation and chronic mucocutaneous candidiasis (CMCC). Previous reports suggest an association between demodicosis and STAT1 GOF. However, immune characterization of these patients is lacking. Here, we present a retrospective analysis of patients with immune dysregulation and STAT1 GOF who presented with facial and ocular demodicosis. In-depth immune phenotyping and functional studies were used to characterize the patients. We identified five patients (three males) from two non-consanguineous Jewish families. The mean age at presentation was 11.11 (range = 0.58-24) years. Clinical presentation included CMCC, chronic demodicosis and immune dysregulation in all patients. Whole-exome and Sanger sequencing revealed a novel heterozygous c.1386C>A; p.S462R STAT1 GOF mutation in four of the five patients. Immunophenotyping demonstrated increased phosphorylated signal transducer and activator of transcription in response to interferon-α stimuli in all patients. The patients also exhibited decreased T cell proliferation capacity and low counts of interleukin-17-producing T cells, as well as low forkhead box protein 3+ regulatory T cells. Specific antibody deficiency was noted in one patient. Treatment for demodicosis included topical ivermectin and metronidazole. Demodicosis may indicate an underlying primary immune deficiency and can be found in patients with STAT1 GOF. Thus, the management of patients with chronic demodicosis should include an immunogenetic evaluation." @default.
• W3170147603 created "2021-06-22" @default.
• W3170147603 creator A5013267100 @default.
• W3170147603 creator A5016225855 @default.
• W3170147603 creator A5028592304 @default.
• W3170147603 creator A5031016876 @default.
• W3170147603 creator A5040672395 @default.
• W3170147603 creator A5046812082 @default.
• W3170147603 creator A5053910366 @default.
• W3170147603 creator A5063591705 @default.
• W3170147603 creator A5065481823 @default.
• W3170147603 creator A5069112208 @default.
• W3170147603 creator A5071487714 @default.
• W3170147603 creator A5081989059 @default.
• W3170147603 creator A5089390166 @default.
• W3170147603 date "2021-07-12" @default.
• W3170147603 modified "2023-10-18" @default.
• W3170147603 title "Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of <i>Signal transducer and activator of transcription (STAT)1</i> gain-of-function" @default.
• W3170147603 cites W1896012968 @default.
• W3170147603 cites W1965512447 @default.
• W3170147603 cites W1992677644 @default.
• W3170147603 cites W2012482649 @default.
• W3170147603 cites W2071504008 @default.
• W3170147603 cites W2087064593 @default.
• W3170147603 cites W2115044545 @default.
• W3170147603 cites W2134194869 @default.
• W3170147603 cites W2144280353 @default.
• W3170147603 cites W2153665789 @default.
• W3170147603 cites W2162790692 @default.
• W3170147603 cites W2178197433 @default.
• W3170147603 cites W2271508188 @default.
• W3170147603 cites W2311181417 @default.
• W3170147603 cites W2326288135 @default.
• W3170147603 cites W2467020097 @default.
• W3170147603 cites W2558725933 @default.
• W3170147603 cites W2579991322 @default.
• W3170147603 cites W2580418217 @default.
• W3170147603 cites W2592674743 @default.
• W3170147603 cites W2606269330 @default.
• W3170147603 cites W2624022977 @default.
• W3170147603 cites W2626326487 @default.
• W3170147603 cites W2769156411 @default.
• W3170147603 cites W2789490290 @default.
• W3170147603 cites W2790511759 @default.
• W3170147603 cites W2800698373 @default.
• W3170147603 cites W2808941341 @default.
• W3170147603 cites W2897796957 @default.
• W3170147603 cites W2938111883 @default.
• W3170147603 cites W2941676523 @default.
• W3170147603 cites W2973205602 @default.
• W3170147603 cites W2976518628 @default.
• W3170147603 cites W2981719518 @default.
• W3170147603 cites W2984561963 @default.
• W3170147603 cites W3003498409 @default.
• W3170147603 cites W3007075185 @default.
• W3170147603 cites W3011051240 @default.
• W3170147603 cites W3081194337 @default.
• W3170147603 cites W3091697820 @default.
• W3170147603 cites W3118781467 @default.
• W3170147603 cites W3170147603 @default.
• W3170147603 cites W4300113461 @default.
• W3170147603 doi "https://doi.org/10.1111/cei.13636" @default.
• W3170147603 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8446414" @default.
• W3170147603 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34114647" @default.
• W3170147603 hasPublicationYear "2021" @default.
• W3170147603 type Work @default.
• W3170147603 sameAs 3170147603 @default.
• W3170147603 citedByCount "7" @default.
• W3170147603 countsByYear W31701476032021 @default.
• W3170147603 countsByYear W31701476032022 @default.
• W3170147603 countsByYear W31701476032023 @default.
• W3170147603 crossrefType "journal-article" @default.
• W3170147603 hasAuthorship W3170147603A5013267100 @default.
• W3170147603 hasAuthorship W3170147603A5016225855 @default.
• W3170147603 hasAuthorship W3170147603A5028592304 @default.
• W3170147603 hasAuthorship W3170147603A5031016876 @default.
• W3170147603 hasAuthorship W3170147603A5040672395 @default.
• W3170147603 hasAuthorship W3170147603A5046812082 @default.
• W3170147603 hasAuthorship W3170147603A5053910366 @default.
• W3170147603 hasAuthorship W3170147603A5063591705 @default.
• W3170147603 hasAuthorship W3170147603A5065481823 @default.
• W3170147603 hasAuthorship W3170147603A5069112208 @default.
• W3170147603 hasAuthorship W3170147603A5071487714 @default.
• W3170147603 hasAuthorship W3170147603A5081989059 @default.
• W3170147603 hasAuthorship W3170147603A5089390166 @default.
• W3170147603 hasBestOaLocation W31701476031 @default.
• W3170147603 hasConcept C16005928 @default.
• W3170147603 hasConcept C171958077 @default.
• W3170147603 hasConcept C203014093 @default.
• W3170147603 hasConcept C2776178377 @default.
• W3170147603 hasConcept C2776603837 @default.
• W3170147603 hasConcept C2777003663 @default.
• W3170147603 hasConcept C2778277574 @default.
• W3170147603 hasConcept C2778923194 @default.
• W3170147603 hasConcept C2780194698 @default.
• W3170147603 hasConcept C54355233 @default.
• W3170147603 hasConcept C62478195 @default.
• W3170147603 hasConcept C65439459 @default.

• next