ROSAH syndrome mimicking chronic uveitis
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14286
Abstract: To suggest a unique missense variant candidate based on long‐term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi‐systemic disorder including Retinal dystrophy, Optic… read more here.
Keywords: unique missense; missense variant; syndrome mimicking; rosah syndrome ... See more keywords
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
Sign Up to like & getrecommendations! Published in 2022 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2022-222629
Abstract: Objectives 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. Methods This cohort study systematically evaluated 27 patients… read more here.
Keywords: inflammation; function; rosah syndrome; autoinflammatory disease ... See more keywords