Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Hratch BaghdassarianSarah A BlackstoneGwendolyn M ClayRachael PhilipsBrynja MatthiasardottirMichele NehrebeckyVivian K HuaRachael McVicarYang LiuSuzanne M TuckerDavide RandazzoNatalie T DeuitchSofia RosenzweigAdam MarkRoman SasikKathleen M FischPallavi Pimpale ChavanElif ErenNorman R WattsChi A MaMassimo GadinaDaniella M SchwartzAnwesha SanyalGiffin WernerDavid R MurdockNobuyuki HoritaShimul ChowdhuryDavid DimmockKristen JepsenElaine F RemmersRaphaela Goldbach-ManskyWilliam A GahlJohn J O'SheaJoshua D MilnerNathan E LewisJohanna ChangDaniel L KastnerKathryn TorokHirotsugu OdaChristopher D PutnamLori BroderickPublished in: The New England journal of medicine (2023)
caused DPM in the families that we studied. The JAK inhibitor ruxolitinib attenuated the dermatologic and inflammatory phenotype in vitro and in the affected family members. (Funded by the American Academy of Allergy, Asthma, and Immunology Foundation and others.).