Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet’s disease

2014 ◽  
Vol 35 (5) ◽  
pp. 837-843 ◽  
Author(s):  
Esra Erkol İnal ◽  
Aydın Rüstemoğlu ◽  
Ahmet İnanır ◽  
Duygu Ekinci ◽  
Ülker Gül ◽  
...  

Behçet’s Disease (BD) is a chronic multisystem vasculitis with unknown etiology, which is characterized by the triad of recurrent oral ulcers, genital ulcers, and iritis. The eye is one of the most commonly affected organs and typical ocular involvement is panuveitis with hypopyon and retinal vasculitis. The diagnosis is based on clinical evaluation including biomicroscopic and funduscopic examination. This article aims to review the clinical findings, diagnosis, and classification of BD.


2021 ◽  
Vol 2 (2) ◽  
pp. 91-99
Author(s):  
Rhodri Smith ◽  
Robert J. Moots ◽  
Mariam Murad ◽  
Graham R. Wallace

Abstract Behçet’s disease (BD) is a multisystem inflammatory disorder of unknown etiology, characterized by oral and genital ulceration, with other complications including eye, skin, joint, and central nervous system (CNS) lesions. Diagnosis is based on clinical findings, which may differ between patients. There is a strong genetic basis for BD; however, only a few genes have been associated with the disease across the geographical spread of BD. In this article, we discuss the history and combination of genes involved in this complex disease in relation to the geographical range and present our view that the disease has developed from a Darwinian perspective, with different gene polymorphisms that affect the same biological pathway. Moreover, these mutations individually are protective mechanisms against the disease relevant to each region, which affected both archaic and modern humans.


2013 ◽  
Vol 33 (4) ◽  
pp. 912-916
Author(s):  
Ahmet Burak BİLGİN ◽  
Mustafa ÜNAL ◽  
Nalan AYDIN ◽  
K. Cemil APAYDIN

F1000Research ◽  
2015 ◽  
Vol 4 ◽  
pp. 91
Author(s):  
Alexander W Pastuszak ◽  
Timothy B. Boone

Behçet’s disease (BD) is an autoimmune vasculitis with an unclear etiology presenting with a classic triad of symptoms including oral and genital ulcers as well as iridocyclitis. A subset of BD patients exhibit neurological symptoms including psychiatric disturbances, balance problems, and voiding dysfunction, and the symptoms of BD can mimic other neurological diseases, including multiple sclerosis (MS).  Differentiating between potential diagnoses is challenging due to the lack of specific tests for these disorders and the overlap between clinical symptoms and radiological findings. We describe the case of a 52 year old woman initially diagnosed with and treated for MS.  From the urologic standpoint, she was treated for neurogenic detrusor overactivity with detrusor-sphincter-dyssynergia utilizing ileocecal augmentation cystoplasty with a continent stoma for intermittent catheterization. The patient was later diagnosed with BD in light of additional clinical findings.


2021 ◽  
Vol 8 ◽  
Author(s):  
Mehmet Yildiz ◽  
Fatih Haslak ◽  
Amra Adrovic ◽  
Sezgin Sahin ◽  
Oya Koker ◽  
...  

Behçet's Disease (BD) is a systemic vasculitis firstly described as a disorder causing aphthous lesion in oral and genital mucosae and uveitis. The disease has an extremely unique distribution characterized by the highest incidence in communities living along the historical Silk road. Although our understanding of the etiopathogenesis of BD has expanded over time, there are still lots of unidentified points in the underlying mechanisms of the disease. The accepted opinion in the light of the current knowledge is that various identified and/or unidentified infectious and/or environmental triggers can take a role as a trigger in individuals with genetic susceptibility. Although the disease usually develops in young adulthood, it is reported that about 15–20% of all Behçet's patients develop in childhood. Pediatric BD differs from adult BD not only with the age of onset but also in the frequency and distribution of clinical findings, disease severity and outcome. While gastrointestinal system involvement, neurological findings, arthralgia and positive family history are more common in children, genital lesions and vascular lesions are more common in adult patients. In addition, a better disease outcome with lower severity score and activity index has been reported in children. The diagnosis of the disease is made according to clinical findings. It can be challenging to diagnose the disease due to the absence of a specific diagnostic test, and the long time interval from the first finding of the disease to the full-blown disease phenotype in pediatric cases. Therefore, many classification criteria have been proposed so far. The widely accepted ones are proposed by the International Study Group. The new sets of classification criteria which is the only one for pediatric BD were also developed for pediatric cases by the PEDBD group. The primary goal for the treatment is preventing the organ damages by suppressing the ongoing inflammation and forestalling the disease flares. The treatment of the BD can be onerous due to its multisystemic nature and a multidisciplinary approach is essential for the management of the patients. In this review article, the definition, clinical findings, epidemiology, etiopathogenesis, and treatment will be discussed.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 843.1-844
Author(s):  
G. Keskin ◽  
M. Erkoc ◽  
E. Ozbek ◽  
K. Kose ◽  
U. Olmez

Background:Behçet’s disease (BD) is a chronic inflammatory disease that may involve many systems including mucocutaneous, vascular, articular, gastrointestinal, neurological and cardiopulmonary systems. Although the pathogenic mechanisms of BD remain unclear, increased release of proinflammatory cytokines and chemokines may play a role in inflammatory stages of the disease.Objectives:IL-1 theta is a member of IL-1 family. A variety of tissue cells, such as endothelial cells, keratinocytes, dendritic cells macrophages, B cells can produce IL-1 theta under the stimulation of pro-inflammatory factors. Several studies have shown that IL-1 theta can promote the production of proinflammatory cytokines. In this study, we investigated the relationship between serum IL- 1 theta levels and disease activity and clinical findings of BD.Methods:59 patients with BD (48 female, 11 male) and 20 healthy controls (17 female, 3 male; mean age 41.0 ± 9.3 years) were enrolled in this study. Thirty five patients were in active stage (mean age; 40.3 ± 11.0 years, median disease duration 7 years) and 24 patients were in inactive stage (mean age; 42.9 ± 13.2 years, median disease duration; 8 years). Serum IL-1 theta levels were evaluated by ELISA.Results:The mean serum IL-1 theta levels were 8.65 ± 4.41 pg/ml in patients with BD and 3.9 ± 2.54 pg/ml in healthy controls. The mean serum IL-1 theta levels were 10.34 ± 5.52 pg/ml in active patients with BD and 6.92 ± 2.43 pg/ml in inactive patients with BD. Serum IL-1 theta levels were significantly high in active Behçet’s patients compared with in inactive Behçet’s patients (p<0.01) and the controls (P<0.001).Serum IL-1 theta levels were significantly higher in the presence of neurological, vascular and mucocutaneous involvement in subgroup analysis according to the clinical findings of Behçet’s patients. IL-1 theta levels were negatively correlation with Platelet count and ESR (r=0.332 p=0.050, r=0.382 p=0.024 respectively). There was no statistically significant difference between IL-1 theta levels disease duration, and CRP.Conclusion:In this study, we demonstrated that serum IL-1 theta levels were significantly elevated in patients with BD. The high levels of serum IL-1 theta, in active and inactive patients with BD suggest that IL-1 theta may play a significant role of in the pathogenesis of BD.References:[1]Salmaninejad, A., et al. Genetics and immunodysfunction underlying Behçet’s disease and immunomodulant treatment approaches. Journal of immunotoxicology, 2017.14(1): 137-151.[2]Nara, K., et al. Involvement of innate immunity in the pathogenesis of intestinal Behcet’s disease. Clin Exp Immunol, 2008.152(2): 245-51.[3]Dalghous, A.M., et al. Expression of cytokines, chemokines, and chemokine receptors in oral ulcers of patients with Behcet’s disease (BD) and recurrent aphthous stomatitis is Th1-associated, although Th2-association is also observed in patients with BD. Scand J Rheumatol, 2006.35(6):472-5.[4]Uzkeser, H., et al. Is mean platelet volume a new activity criteria in Behçet’s disease? Blood Coagulation & Fibrinolysis, 2015.26(7): 836-839.Disclosure of Interests:None declared


2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Ehsan Shahverdi ◽  
Mehdi Morshedi ◽  
Faraneh Oraei-Abbasian ◽  
Maryam Allahverdi Khani ◽  
Roya Khodayarnejad

Isolated cecal necrosis is a rare form of acute ischemic colitis and a rare cause of surgical abdomen. Behçet’s disease is a multisystemic autoimmune condition which can induce vasculitis. This can result in cecal necrosis while disease involves colon vessels. We describe a patient with complicated Behçet’s disease and ischemic colitis admitted to our hospital. Patient was a 62-year-old female with more accompanying diseases. Histopathologic findings confirmed the diagnosis of ischemic colitis and regarding patient’s vision problem and skin lesions, rheumatologic tests were performed which were positive for HLAB5 and HLAB51 suggestive of Behçet’s disease; the patient was improved with surgery. Abdominal pain can indicate a disease with vascular involvement like Behçet’s disease, especially in the presence of other clinical findings suggestive of the disease including blurred vision and skin lesions. An abdominal computerized tomography (CT) scan is very diagnostic in the same patients.


Sign in / Sign up

Export Citation Format

Share Document