Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Christina Torres KozyckiShilpa KodatiLaryssa HurynHongying WangBlake M WarnerPriyam JaniDima HammoudMones S Abu-AsabYingyos JittayasothornMary J MattapallilWanxia Li TsaiEhsan UllahPing ZhouXiaoying TianAriane SoldatosNiki MoutsopoulosMarie Kao-HsiehTheo HellerEdward W CowenChyi-Chia Richard LeeCamilo ToroShelley KalsiZohreh KhavandgarAlan BaerMargaret BeachDebra Long PrielMichele NehrebeckySofia RosenzweigTina RomeoNatalie DeuitchLaurie BrenchleyEileen PelayoWadih ZeinNida SenAlexander H YangGary FarleyDavid A SweetserLauren BriereJanine YangFabiano de Oliveira PoswarIda Vanessa D SchwartzTamires Silva AlvesPerrine DusserIsabelle Kone-PautIsabelle TouitouSalah Mohamed TitahPetrus Martin van HagenRogier T A van WijckPeter J van der SpekHiromi YanoAndreas BennecheEllen M ApalsetRagnhild Wivestad JanssonRachel R CaspiDouglas Byron KuhnsMassimo GadinaHidetoshi TakadaHiroaki IdaRyuta NishikomoriElena VerrecchiaEugenio SangiorgiRaffaele MannaBrian P BrooksLucia SobrinRobert B HufnagelDavid BeckFeng ShaoAmanda K OmbrelloIvona AksentijevichDaniel L Kastnernull nullPublished in: Annals of the rheumatic diseases (2022)
and some features of disease are amenable to immunomodulatory therapy.