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JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
Del Bel, Kate L; Ragotte, Robert J; Saferali, Aabida; Lee, Susan; Vercauteren, Suzanne M; Mostafavi, Sara A; Schreiber, Richard A; Prendiville, Julie S; Phang, Min S; Halparin, Jessica; Au, Nicholas; Dean, John M; Priatel, John J; Jewels, Emily; Junker, Anne K; Rogers, Paul C; Seear, Michael; McKinnon, Margaret L; Turvey, Stuart E.
Affiliation
  • Del Bel KL; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Ragotte RJ; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Saferali A; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Lee S; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Vercauteren SM; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Mostafavi SA; Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Schreiber RA; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Prendiville JS; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Phang MS; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Halparin J; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Au N; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Dean JM; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Priatel JJ; Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Jewels E; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Junker AK; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Rogers PC; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • Seear M; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • McKinnon ML; Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: mmckinnon@cw.bc.ca.
  • Turvey SE; Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: sturvey@cw.bc.ca.
J Allergy Clin Immunol ; 139(6): 2016-2020.e5, 2017 06.
Article in En | MEDLINE | ID: mdl-28111307
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypereosinophilic Syndrome / Janus Kinase 1 / Gain of Function Mutation / Genes, Dominant / Immune System Diseases Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Allergy Clin Immunol Year: 2017 Document type: Article Affiliation country: Canadá
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypereosinophilic Syndrome / Janus Kinase 1 / Gain of Function Mutation / Genes, Dominant / Immune System Diseases Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Allergy Clin Immunol Year: 2017 Document type: Article Affiliation country: Canadá