ROSAH syndrome is an autoinflammatory disease: Drs. Christina Kozycki and Dan Kastner, NIH

To cite: Kozycki CT, Kodati S, Huryn L Undiagnosed Diseases Network, et al. 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. Annals of the Rheumatic Diseases Published Online First: 22 July 2022. doi: 10.1136/annrheumdis-2022-222629

Objective: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in ALPK1, is an autoinflammatory disease.

Conclusions: ROSAH syndrome is an autoinflammatory disease caused by gain-of-function mutations in ALPK1 and some features of disease are amenable to immunomodulatory therapy.