JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome

  • J Allergy Clin Immunol. 2017 Jun;139(6):2016-2020.e5. doi: 10.1016/j.jaci.2016.12.957.
Kate L Del Bel  1 ,  Robert J Ragotte  1 ,  Aabida Saferali  1 ,  Susan Lee  1 ,  Suzanne M Vercauteren  2 ,  Sara A Mostafavi  3 ,  Richard A Schreiber  1 ,  Julie S Prendiville  1 ,  Min S Phang  1 ,  Jessica Halparin  1 ,  Nicholas Au  2 ,  John M Dean  1 ,  John J Priatel  2 ,  Emily Jewels  1 ,  Anne K Junker  1 ,  Paul C Rogers  1 ,  Michael Seear  1 ,  Margaret L McKinnon  4 ,  Stuart E Turvey  5
Affiliations
  • 1. Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • 2. Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • 3. Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
  • 4. Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: [email protected].
  • 5. Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: [email protected].
PMID: 28111307 DOI: 10.1016/j.jaci.2016.12.957