scholarly journals Detection ofMycobacterium avium ss. Paratuberculosisin Blau Syndrome Tissues

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
C. Thomas Dow ◽  
Jay L. E. Ellingson

Background and Aim of the Work. Blau syndrome is an inherited granulomatous inflammatory disorder with clinical findings of uveitis, arthritis, and dermatitis. Although rare, Blau syndrome shares features with the more common diseases sarcoidosis and Crohn's disease. The clinical findings of Blau syndrome are indistinguishable from juvenile sarcoidosis; the mutations of Blau syndrome are on the same gene of chromosome 16 (CARD15) that confers susceptibility to Crohn's disease. The product of this gene is part of the innate immune system.Mycobacterium avium ss. paratuberculosis(MAP) is the putative cause of Crohn's disease and has been implicated as a causative agent of sarcoidosis.Methods. Archival tissues of individuals with Blau syndrome were tested for the presence of MAP.Results. DNA evidence of MAP was detected in all of the tissues.Conclusions. This article finds that MAP is present in Blau syndrome tissue and postulates that it has a causal role. The presence of MAP in Blau syndrome—an autosomal dominant, systemic inflammatory disease—connects genetic and environmental aspects of “autoimmune” disease.

2016 ◽  
Vol 10 (2) ◽  
pp. 206-211
Author(s):  
Danyal Thaver ◽  
Mirza Beg

Crohn’s disease (CD) is an autoimmune inflammatory disorder that primarily affects the gastrointestinal tract. It may have pulmonary involvement, which has been rarely reported in pediatric patients. Down syndrome (DS) has been associated with increased frequency of autoimmune diseases. However, associations between CD and DS have been rarely reported. We present the case of a 5-year-old girl with known DS and a history of chronic intermittent abdominal pain who presented with persistent pneumonia. Her workup included a chest computed tomography (CT) scan that showed multiple noncalcified pulmonary nodules. An extensive infectious workup was done that was negative. CT-guided needle biopsy of the lung nodules showed necrotizing granulomas. This raised concern for primary CD with extraintestinal pulmonary manifestation. An esophagogastroduodenoscopy and colonoscopy were performed, and colon biopsies showed scattered epithelioid granulomas. Based on this information, there was consensus that her lung nodules were secondary to CD. She was started on standard therapy for CD, and her abdominal and respiratory symptoms gradually improved. However, she continues to have mild residual lung calcification and fibrosis. To our knowledge, this is the first reported case of pulmonary CD in a child with DS. The natural history of pulmonary CD in the pediatric population is not very well studied. Furthermore, since DS has been well known to be associated with increased frequency of malignancies and autoimmune conditions due to immune dysregulation, it is difficult to predict the severity and possible complications in this patient.


2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Pamathy Gnanaselvam ◽  
Dhanushka N. Weerakoon ◽  
W. A. M. Wijayasuriya ◽  
Vishva Samidi Mohottala ◽  
B. M. E. S. Sinhakumara ◽  
...  

The isolated appendiceal Crohn’s disease without preceding bowel symptoms is a rare phenomenon, especially in older patients. In this case report, we present a 60-year-old female with isolated appendiceal Crohn’s disease presenting with acute appendicitis. She presented with classical features of appendicitis with elevated inflammatory markers. She underwent an appendectomy which showed an excessively swollen, oedematous, and reddish appendix with swelling extending to the base of the caecum. Histological evaluation was suggestive of Crohn’s disease, and subsequent colonoscopy was unremarkable. Following appendectomy, she was asymptomatic without any recurrence of disease. The atypical morphological appearance of the appendix should raise suspicion of Crohn’s disease. This case highlights the importance of histopathological analysis of the specimen, especially in abnormal clinical findings. The prognosis of such patients seems to be good, and additional treatment is rarely needed.


PLoS ONE ◽  
2019 ◽  
Vol 14 (2) ◽  
pp. e0213108 ◽  
Author(s):  
Ellen Li ◽  
Yuanhao Zhang ◽  
Xinyu Tian ◽  
Xuefeng Wang ◽  
Grace Gathungu ◽  
...  

2013 ◽  
Vol 144 (5) ◽  
pp. S-832 ◽  
Author(s):  
Rodrigo Quera ◽  
Marjorie De La Fuente ◽  
David Díaz-Jiménez ◽  
Roberto Vidal ◽  
Francisco López-Kostner ◽  
...  

2008 ◽  
Vol 134 (4) ◽  
pp. A-510
Author(s):  
Laura Stronati ◽  
Anna Negroni ◽  
Maria Pierdomenico ◽  
Ilaria Menghi ◽  
Giulia Maiella ◽  
...  

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Victoria L. Woo

Crohn’s disease (CD) is an inflammatory disorder of the gastrointestinal tract that is likely caused by an inappropriate mucosal inflammatory response to intestinal bacteria in a genetically predisposed host. The lesions of CD can involve any region of the GI tract as well as extraintestinal sites such as the skin, joints, and eyes. The most common presenting symptoms are abdominal pain and prolonged diarrhea associated with fevers, fatigue, and malaise. Delayed growth and failure to thrive may also be observed in pediatric patients. Oral manifestations of CD are known as oral CD and may precede GI involvement, thus serving as early markers of this condition. We describe a 6-year-old male who presented with oral lesions as his initial manifestation of disease and review the current literature pertaining to oral CD.


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