Interstitial pneumonitis in Blau syndrome with documented mutation inCARD15
نویسندگان
چکیده
منابع مشابه
A New Mutation in Blau Syndrome
Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2-13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who...
متن کاملDesquamative interstitial pneumonitis vs usual interstitial pneumonitis.
My colleague and collaborator, the late Edgar G. Harrison, Jr., M.D., was of the opinion that “desquamation” was a fundamental phenomenon in the spectrum of usual interstitial pneumonitis. In our report’ on classic interstitial pneumonitis-flbrosis, we found that almost two-thirds of our biopsies revealed this finding. Harrison believed that the designation, “desquamative interstitial pneurnoni...
متن کاملDesquamative Interstitial Pneumonitis vs Usual Interstitial Pneumonitis
My colleague and collaborator, the late Edgar G. Harrison, Jr., M.D., was of the opinion that “desquamation” was a fundamental phenomenon in the spectrum of usual interstitial pneumonitis. In our report’ on classic interstitial pneumonitis-flbrosis, we found that almost two-thirds of our biopsies revealed this finding. Harrison believed that the designation, “desquamative interstitial pneurnoni...
متن کاملA new mutation in blau syndrome: case report
Introduction Blau syndrome is a rare autoinflamattory granulomatous disease and inherited as autosomal dominant.The classical triad of Blau syndrome is granulomatous dermatitis, symmetric arthritis and recurrent uveitis. However, all of these findings may not be together in the patients. In the majority of patients, the disease is characterized by early onset that usually before 3-4 years of ag...
متن کاملClinical phenotype and CARD15 gene mutation with Blau Syndrome in Chinese children and their parents
Results 8 patients were diagnosed. The onset age was from 1 month to 5 years. Three of them were misdiagnosed as JIA and Takayasu's arteritis respectively. One case had family history. All patients has had typical rash, joints problem, bilateral pan-uveitis. Two had hearing lose, four had Takayasu's arteritis with hypertension, and two of them had renal artery stenosis with severe hypertension ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Arthritis & Rheumatism
سال: 2007
ISSN: 0004-3591,1529-0131
DOI: 10.1002/art.22509