Clinical phenotype and CARD15 gene mutation with Blau Syndrome in Chinese children and their parents

Abstract

Objective: To find the clinical features of Blau Syndrom and analyze CARD15 gene mutation of the patients and their parents. Methods: Retrospective review of cases of Blau Syndrome from the year of 2006 to 2009. Results: Twelve cases were diagnosed. There were seven boys and five girls. The age was 1.5-13 years. The disease course was 1-11 years. Five patients were misdiagnosed as JIA and Takayasu's arteritis respectively. One case had family history. All patients has had typical rash and joints problem. All the patients had polyarticular symmetrical cyst-like synovitis in different joints. Bilateral pan-uveitis was in all the patients. Two patients had hearing lose, four had Takayasu's arteritis with hypertension, and two of them had renal artery stenosis with severe hypertension and aortitis. Histologically, there was synovial and dermis proliferation with non-caseating giant cell granulomas in all the patients. We analyzed 10 patients and their parents' NOD2/CARD15 gene. We have found six mutations in them. R334W and R334Q were reported previously in other countries, E383D, R471C and R587C are new mutations, 1761T/G is also a new mutation but a samesense mutation. The parents of a patient also have mutations and his father with the disease. In the treatment, all of them received NSAIDS, steroid treatment, three of them also with TNF blockers. All of them were efficiency. Conclusion: We diagnosed 12 patients in Chinese Children. Blau syndrome also can involve Chinese population. They had CARD15 gene mutation and some mutations are special changes in Chinese population.