This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Case Reports

. 2017 Jun;139(6):2016-2020.e5.

doi: 10.1016/j.jaci.2016.12.957. Epub 2017 Jan 19.

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

Kate L Del Bel¹, Robert J Ragotte¹, Aabida Saferali¹, Susan Lee¹, Suzanne M Vercauteren², Sara A Mostafavi³, Richard A Schreiber¹, Julie S Prendiville¹, Min S Phang¹, Jessica Halparin¹, Nicholas Au², John M Dean¹, John J Priatel², Emily Jewels¹, Anne K Junker¹, Paul C Rogers¹, Michael Seear¹, Margaret L McKinnon⁴, Stuart E Turvey⁵

Affiliations

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: mmckinnon@cw.bc.ca.
⁵ Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: sturvey@cw.bc.ca.

PMID: 28111307
DOI: 10.1016/j.jaci.2016.12.957

Case Reports

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

Kate L Del Bel et al. J Allergy Clin Immunol. 2017 Jun.

. 2017 Jun;139(6):2016-2020.e5.

doi: 10.1016/j.jaci.2016.12.957. Epub 2017 Jan 19.

Authors

Kate L Del Bel¹, Robert J Ragotte¹, Aabida Saferali¹, Susan Lee¹, Suzanne M Vercauteren², Sara A Mostafavi³, Richard A Schreiber¹, Julie S Prendiville¹, Min S Phang¹, Jessica Halparin¹, Nicholas Au², John M Dean¹, John J Priatel², Emily Jewels¹, Anne K Junker¹, Paul C Rogers¹, Michael Seear¹, Margaret L McKinnon⁴, Stuart E Turvey⁵

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: mmckinnon@cw.bc.ca.
⁵ Department of Pediatrics, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: sturvey@cw.bc.ca.

PMID: 28111307
DOI: 10.1016/j.jaci.2016.12.957

No abstract available

PubMed Disclaimer

Publication types

Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions

Grants and funding

CIHR/Canada

LinkOut - more resources

Full Text Sources
Other Literature Sources
- The Lens - Patent Citations Database
- scite Smart Citations
Medical
- MedlinePlus Health Information
Molecular Biology Databases
- BioCyc
- GlyGen glycoinformatics resource
Research Materials
- NCI CPTC Antibody Characterization Program
Miscellaneous
- NCI CPTAC Assay Portal