STAT1 gain of function, type 1 diabetes, and reversal with JAK inhibition
NS Chaimowitz, SJ Ebenezer, IC Hanson… - … England Journal of …, 2020 - Mass Medical Soc
NS Chaimowitz, SJ Ebenezer, IC Hanson, M Anderson, LR Forbes
New England Journal of Medicine, 2020•Mass Medical SocSTAT1 Gain of Function, Diabetes, and Ruxolitinib This letter describes the case of an
adolescent boy with heterozygous STAT1 gain-of-function syndrome and type 1 diabetes.
Diabetes and other features of the syndrome resolved with the use of the Janus kinase
inhibitor ruxolitinib. The patient was able to discontinue insulin therapy and remained
euglycemic.
adolescent boy with heterozygous STAT1 gain-of-function syndrome and type 1 diabetes.
Diabetes and other features of the syndrome resolved with the use of the Janus kinase
inhibitor ruxolitinib. The patient was able to discontinue insulin therapy and remained
euglycemic.
STAT1 Gain of Function, Diabetes, and Ruxolitinib
This letter describes the case of an adolescent boy with heterozygous STAT1 gain-of-function syndrome and type 1 diabetes. Diabetes and other features of the syndrome resolved with the use of the Janus kinase inhibitor ruxolitinib. The patient was able to discontinue insulin therapy and remained euglycemic.
The New England Journal Of Medicine