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

Publication date: Available online 19 January 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Kate L. Del Bel, Robert J. Ragotte, Aabida Saferali, Susan Lee, Suzanne M. Vercauteren, Sara A. Mostafavi, Richard A. Schreiber, Julie S. Prendiville, Min S. Phang, Jess Halperin, Nicholas Au, John M. Dean, Emily Jewels, Anne K. Junker, Paul C. Rogers, Michael Seear, Margaret L. McKinnon, Stuart E. Turvey

Teaser

Germline JAK1 gain-of-function mutations cause autosomal dominant immune dysregulation and hypereosinophilia with eosinophilic infiltration of the gastrointestinal tract, massive hepatosplenomegaly and severe atopic dermatitis that can be successfully treated with ruxolitinib, an oral JAK1/2 inhibitor.


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