نتایج جستجو برای: familial sarcoidosis

تعداد نتایج: 64953  

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sarcoidosis is a granulomatius disease of unknown etiology involving multiple body systems.approximately 10-35% of patients with systemic disease have cutaneous involvement.skin lesions commonly observed in sarcoidosis include:erythema nodosum,macular or parpular rashes,nodules,hypopigmented or hyperpigmented patches,scarsarcoid,lupus pernio,plaques,and rarely mocusal lesions.this report descri...

2011
Georges Khalil Grace Obeid Elie Mansour Georges Nawfal

Sarcoidosis is a systemic disease with no definite etiology, but a lot of potential precipitating factors. Familial sarcoidosis was mentioned in the literature long time ago and has been associated with different HLA phenotypes with a prevalence reaching values up to 4% and more; however, it was never studied in the Middle East. This article reports a case of sarcoidosis in two Lebanese brother...

Journal: :European journal of rheumatology 2017
Ekin Akyıldız Şenol Kobak

Sarcoidosis is a chronic, multisystemic inflammatory disease, characterized with noncaseating granulomas. The pathogenesis of the disease is not yet clear, however, the main hypothesis is impaired and inadequate immune response developing against different environmental triggers in genetically predisposed people. The role of genetic factors in the development of sarcoidosis is well known. Over ...

Journal: :Respiration; international review of thoracic diseases 2007
Mark P Steele Kevin K Brown

The availability of high-throughput genotyping and large collaborative clinical networks creating well-characterized patient populations with DNA repositories has facilitated genome-wide scans and candidate gene studies to identify susceptibility alleles for the development of interstitial lung disease. The association of pulmonary fibrosis with rare inherited disorders, and the variable suscep...

Journal: :Internal medicine 2012
Sayaka Kawano Johji Kato Noriaki Kawano Yuki Yoshimura Hiroyuki Masuyama Takashi Fukunaga Yoshiya Shimao Kenroh Mihara Akira Ueda Kiyokazu Toyoda Takuroh Imamura Kazuo Kitamura

Sarcoidosis is a multisystemic granulomatous disease of unknown etiology. We report an unusual case of sarcoidosis in a woman presenting with cardiac sarcoidosis and massive splenomegaly with a familial history of cardiac sarcoidosis. Cardiac sarcoidosis was diagnosed based on electrocardiogram, echocardiogram, 18F-fluoro-2-deoxyglucose positron emission tomography (18F-FDG-PET) and skin histol...

2016
Yves Pacheco Alain Calender Dominique Israël-Biet Pascal Roy Serge Lebecque Vincent Cottin Diane Bouvry Hilario Nunes Pascal Sève Laurent Pérard Gilles Devouassoux Nathalie Freymond Chahira Khouatra Benoît Wallaert Raphaelle Lamy Mad-Hélénie Elsensohn Claire Bardel Dominique Valeyre A. Gouita P. Chanez E. Peyrat-Detis G. Prevot S. Diab F. Prieur M. Locatelli-Sanchez M. Gaillot-Drevon L. Kiakouama C. Broussolle L. Varron A. Charron J. Kuntz K. Ledoux M. C. Le Scanff Bouaziz M. Pavic J. Ninet J. F. Cordier M. Vincent M. Coudurier F. Gagnadoux F. Jounieaux G. Terce P. Diot S. Marchand-Adams H. Morel S. Jouneau L. Olivier-Faivre J. Lacronique K. Juvin B. Crestani M. Aubier R. Borie R. Roussel C. Chapelon Abric B. Hervier J. C. Piette T. Janssens D. Saadoun N. Nathan A. Clément J. P. Ducroix C. Guillaumat E. Watkin M. Freynet J. M. Naccache Y. Uzunhan N. Limal

BACKGROUND The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated. RESULTS The study performed independent analyses of BTNL2 polymorphism, clinical phenotypes, and outcomes in familial vs. sporadic presentations in 256 sporadic and 207 familial cases from 14...

Journal: :Journal of the Formosan Medical Association 2007

Journal: :Collegium antropologicum 2006
Marija Alilović Tatjana Peros-Golubicić Jasna Tekavec-Trkanjec Silvana Smojver-Jezek Rajka Liscić

The aim of our study was to explore the characteristics of hospitalized patients with sarcoidosis concerning age, gender, clinical forms and staging, seasonality, geographical distribution, smoking habit and profession, familial clustering and mortality. We included 476 biopsy-proven sarcoidosis patients who were diagnosed at the University Hospital for Lung Diseases "Jordanovac" in the period ...

Journal: :Thorax 2000
D S McGrath Z Daniil P Foley J L du Bois P A Lympany P Cullinan R M du Bois

BACKGROUND The last comprehensive epidemiological studies on familial sarcoidosis in the UK were more than 25 years ago, reporting another affected family member in 1.7% of index cases. A significant proportion of like-sex over unlike-sex pairs, an excess of mother-child over father-child associations, and a preponderance of monozygous over dizygous twins was noted. Another study reported ethni...

2018
Valérie Besnard Alain Calender Diane Bouvry Yves Pacheco Catherine Chapelon-Abric Florence Jeny Hilario Nunes Carole Planès Dominique Valeyre

BACKGROUND Sarcoidosis is a systemic disease characterized by the formation of immune granulomas in various organs, mainly the lungs and the lymphatic system. Exaggerated granulomatous reaction might be triggered in response to unidentified antigens in individuals with genetic susceptibility. The present study aimed to determine the genetic variants implicated in a familial case of sarcoidosis....

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