title: JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Kate L
authors.initials: KL
authors.lastname: Del Bel
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Ragotte
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Aabida
authors.initials: A
authors.lastname: Saferali
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Susan
authors.initials: S
authors.lastname: Lee
authors.affiliation: Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Suzanne M
authors.initials: SM
authors.lastname: Vercauteren
authors.affiliation: Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Sara A
authors.initials: SA
authors.lastname: Mostafavi
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Schreiber
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Julie S
authors.initials: JS
authors.lastname: Prendiville
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Min S
authors.initials: MS
authors.lastname: Phang
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Jessica
authors.initials: J
authors.lastname: Halparin
authors.affiliation: Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Au
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: John M
authors.initials: JM
authors.lastname: Dean
authors.affiliation: Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: John J
authors.initials: JJ
authors.lastname: Priatel
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Emily
authors.initials: E
authors.lastname: Jewels
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Anne K
authors.initials: AK
authors.lastname: Junker
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Paul C
authors.initials: PC
authors.lastname: Rogers
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Michael
authors.initials: M
authors.lastname: Seear
authors.affiliation: Department of Medical Genetics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: mmckinnon@cw.bc.ca.
authors.forename: Margaret L
authors.initials: ML
authors.lastname: McKinnon
authors.affiliation: Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: sturvey@cw.bc.ca.
authors.forename: Stuart E
authors.initials: SE
authors.lastname: Turvey
mesh_terms: D000483:Alleles; D005260:Female; D000073659:Gain of Function Mutation; D005799:Genes, Dominant; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D007154:Immune System Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D056747:Immunomodulation / Q000235:genetics; D053613:Janus Kinase 1 / Q000737:chemistry / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D000073359:Exome Sequencing
chemical_list: C507904:JAK1 protein, human; D053613:Janus Kinase 1