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ARD: ALPK1 gain-of-function mutations cause NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotype, and disease course in patients with ROSAH syndrome

 Last Update: 2022-09-06
 Source: Internet
 Author: User

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

Methods: This cohort study systematically assessed the inflammatory profile of 27 patients with ROSAH syndrome and investigated the impact of ALPK1 mutations on immune signaling

Results: Most of the cohorts carried the p.

Conclusions: ROSAH syndrome is an autoinflammatory disease caused by gain-of-function mutations in ALPK1, and certain features of the disease are suitable for immunomodulatory therapy

Source: Kozycki CT, Kodati S, Huryn L, et al.

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