Pattern recognition is a sequential process-accurate diagnosis and treatment 20 years after presentation

A 25-year-old woman presented with ophthalmic and neurological manifestations. Her ocular manifestations included bilateral uveitis, multifocal retinal phlebitis, vitreitis and multiple retinal haemorrhages. Her neurological manifestations included migrainous headaches with visual aura, transient sensory symptoms and posterior circulation Transient Ischemic Attack (TIA). Magnetic resonance imaging of the brain demonstrated lesions that involved the deep white matter lesions initially and progressed to also involve the juxta cortical white and deep grey matter and brain stem, but without further neurological manifestations. She was sequentially treated with intravenous and oral glucocorticoid, cyclophosphamide and mycophenolate mofetil, but she continued to suffer with persistent episodes of retinal haemorrhages. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), Susac syndrome and Behcet's disease were considered in the differential diagnosis. Genetic workup and clinical picture were not suggestive of the former two. Further history of oro-genital ulceration in younger age emerged, which pointed strongly towards a diagnosis of Behcet's disease with neurological involvement. She was treated with infliximab and methotrexate with complete resolution of her symptoms and withdrawal of corticosteroids for the first time in over two decades

The oral mucosal and salivary microbial community of Behçet's syndrome and recurrent aphthous stomatitis.

This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.Behçet's syndrome (BS) is a multisystem immune-related disease of unknown etiology. Recurrent aphthous stomatitis (RAS) is characterized by the presence of idiopathic oral ulceration without extraoral manifestation. The interplay between the oral microbial communities and the immune response could play an important role in the etiology and pathogenesis of both BS and RAS

The seroprevalence and salivary shedding of herpesviruses in Behcet's syndrome and recurrent aphthous stomatitis

This journal is published under the terms of the Creative Commons Attribution-NonCommercial 4.0 Unported licens

Retinal S-antigen Th1 cell epitope mapping in patients with Behcet's disease

Background - Retinal S-antigen (S-Ag) is a most characterized autoantigen of autoimmune uveitis. The recognized immunodominant epitope of human S-Ag in patients with uveitis has not been identified. In this study, we selected certain patients with active uveitis to map the Th1 cell epitope spectrum of human S-Ag in Behcet's disease(BD). Methods - Blood samples were taken from eight active BD patients who showed an immune response to 40 mixed overlapping peptides spanning the entire sequence of human S-Ag. Peripheral blood mononuclear cells were isolated and stimulated with single S-Ag peptide at 5 mu g/ml or 20 mu g/ml. Single-cell immune responses were measured by IFN-gamma ELIspot assay. Results - BD patients heterogeneously responded to the S-Ag peptides at two concentrations. In general, the responses to 5 mu g/ml peptides were slightly stronger than those to 20 mu g/ml peptides, while the maximum SFC frequency to single peptide at the two concentrations was similar. Several peptides including P31, P35 and P40 induced a prominent response, with the frequency of S-Ag specific cells being about 0.007%. Significant reactivity pattern shift was noted in patients with different disease courses. Conclusions - Certain active BD patients have S-Ag specific Th1 cells with a low frequency. The S-Ag epitope specificity between patients is highly heterogeneous, and varies with the uveitis cours

Autoimmune and autoinflammatory mechanisms in uveitis

The eye, as currently viewed, is neither immunologically ignorant nor sequestered from the systemic environment. The eye utilises distinct immunoregulatory mechanisms to preserve tissue and cellular function in the face of immune-mediated insult; clinically, inflammation following such an insult is termed uveitis. The intra-ocular inflammation in uveitis may be clinically obvious as a result of infection (e.g. toxoplasma, herpes), but in the main infection, if any, remains covert. We now recognise that healthy tissues including the retina have regulatory mechanisms imparted by control of myeloid cells through receptors (e.g. CD200R) and soluble inhibitory factors (e.g. alpha-MSH), regulation of the blood retinal barrier, and active immune surveillance. Once homoeostasis has been disrupted and inflammation ensues, the mechanisms to regulate inflammation, including T cell apoptosis, generation of Treg cells, and myeloid cell suppression in situ, are less successful. Why inflammation becomes persistent remains unknown, but extrapolating from animal models, possibilities include differential trafficking of T cells from the retina, residency of CD8(+) T cells, and alterations of myeloid cell phenotype and function. Translating lessons learned from animal models to humans has been helped by system biology approaches and informatics, which suggest that diseased animals and people share similar changes in T cell phenotypes and monocyte function to date. Together the data infer a possible cryptic infectious drive in uveitis that unlocks and drives persistent autoimmune responses, or promotes further innate immune responses. Thus there may be many mechanisms in common with those observed in autoinflammatory disorders

Determination of serum visfatin level in patients with Behcet disease, comparing with normal population

Background: Behcet’s disease is an inflammatory, systemic and chronic disorder with unknown etiology affecting multiple systems of body (1). The cause is not clear but seems to be multifactorial, including immune system dysfunction (humoral and cellular immune defects), endothelial cell dysfunction and genetic predisposition (2). White adipose tissue produces variety of proteins in the name of adipocytokines, with important roles in body metabolism. One of these newly identified secreted adipocytokines is visfatin, which is secreted by the visceral fat and its plasma level increases during the obesity. It has insulinmimetic effects in metabolism of cultured cells and activates the insulin receptor (3). Visfatin stimulates inflammatory cells like monocytes and can induces increasing circulating level of IL-6 in mice. It have been considered as a new proinflammatory adipocytokine (4). Previous studies have evaluated visfatin level in immunologic disorders like rheumatoid arthritis and showed it was significantly higher in comparing to control subjects (4,5,6). There was no evaluation in patients with behcet disease yet. Objectives: We have evaluated visfatin level in patients with behcet disease finding inflammatory role of that in pathogenesis and clinical manifestations of behcet disease. Methods: We have evaluated 40 patients with Behcet’s disease fulfilled the International Study Group Criteria for the Diagnosis of Behc¸et’s Disease (ISG) and 40 healthy subjects from healthy candidates referring to behcet clinic of Shiraz medical university as a referral center for these patients in south Iran. Both groups have been matched for age, body mass index (BMI) and sex. Visfatin was checked in both groups using ELISA Kit. Results: There were no significant difference between cases and controls in mean concentration of visfatin level (P = 0.61). Difference in the visfatin level between patients with active and inactive manifestations of Behcet’s disease approximated to the significant levels (6.13 3.20 and 4.25 2.73, respectively; P = 0.07). Conclusion: In view of our study, we have concluded that visfatin levels may affect the clinical manifestations of BD maybe as a proinfalmmatory marker in pathogenesis and active manifestations of Behcet’s disease although more cases should be included in future works

2.20 Behcet’s disease and miscellaneous rheumatic conditions

Background: Behcet’s disease is an inflammatory, systemic and chronic disorder with unknown etiology affecting multiple systems of body (1). The cause is not clear but seems to be multifactorial, including immune system dysfunction (humoral and cellular immune defects), endothelial cell dysfunction and genetic predisposition (2). White adipose tissue produces variety of proteins in the name of adipocytokines, with important roles in body metabolism. One of these newly identified secreted adipocytokines is visfatin, which is secreted by the visceral fat and its plasma level increases during the obesity. It has insulinmimetic effects in metabolism of cultured cells and activates the insulin receptor (3). Visfatin stimulates inflammatory cells like monocytes and can induces increasing circulating level of IL-6 in mice. It have been considered as a new proinflammatory adipocytokine (4). Previous studies have evaluated visfatin level in immunologic disorders like rheumatoid arthritis and showed it was significantly higher in comparing to control subjects (4,5,6). There was no evaluation in patients with behcet disease yet. Objectives: We have evaluated visfatin level in patients with behcet disease finding inflammatory role of that in pathogenesis and clinical manifestations of behcet disease. Methods: We have evaluated 40 patients with Behcet’s disease fulfilled the International Study Group Criteria for the Diagnosis of Behc¸et’s Disease (ISG) and 40 healthy subjects from healthy candidates referring to behcet clinic of Shiraz medical university as a referral center for these patients in south Iran. Both groups have been matched for age, body mass index (BMI) and sex. Visfatin was checked in both groups using ELISA Kit. Results: There were no significant difference between cases and controls in mean concentration of visfatin level (P = 0.61). Difference in the visfatin level between patients with active and inactive manifestations of Behcet’s disease approximated to the significant levels (6.13 3.20 and 4.25 2.73, respectively; P = 0.07). Conclusion: In view of our study, we have concluded that visfatin levels may affect the clinical manifestations of BD maybe as a proinfalmmatory marker in pathogenesis and active manifestations of Behcet’s disease although more cases should be included in future works

Role of brain perfusion SPECT with 99mTc HMPAO in the assessment of response to drug therapy in patients with autoimmune vasculitis: a prospective study

Abstract BACKGROUND: The diagnosis of vasculitis in the brain remains a quite difficult achievement. To the best of our knowledge, there is no imaging method reported in literature which is capable of reaching to a diagnosis of vasculitis with very high sensitivity. AIM: The aim of this study was to determine whether perfusion brain single photon emission computed tomography (SPECT) can be usefully employed in monitoring the treatment of vasculitis, allowing treating only potentially responder patients and avoiding the side effects on patients who do not respond. MATERIALS AND METHODS: Twenty patients (two males and 18 females) suffering from systemic lupus erythematosus (SLE; n = 5), Behcet's disease (BD; n = 5), undifferentiated vasculitis (UV; n = 5), and Sjogren's syndrome (SS; n = 5) were included in the study. All patients underwent a wide neurological anamnestic investigation, a complete objective neurological examination and SPECT of the brain with 99mTc-hexamethyl-propylene-aminoxime (HMPAO). The brain SPECT was then repeated after appropriate medical treatment. The neurological and neuropsychiatric follow-up was performed at 6 months after the start of the treatment. RESULTS: Overall, the differences between the scintigraphic results obtained after and before the medical treatment indicated a statistically significant increase of the cerebral perfusion (CP). In 19 out of 200 regions of interest (ROI) studied, the difference between pre- and post treatment percentages had negative sign, indicating a worsening of CP. This latter event has occurred six times (five in the same patients) in the UV, 10 times (eight in the same patients) in the SLE, never in BD, and three times (two in the same patient) in the SS. CONCLUSION: The reported results seem to indicate the possibility of identifying, by the means of a brain SPECT, responder and nonresponder (unchanged or worsened CP) patients, affected by autoimmune vasculitis, to the therapy

Audio-vestibular symptoms in systemic autoimmune diseases

Immune-mediated inner ear disease can be primary, when the autoimmune response is against the inner ear, or secondary. The latter is characterized by the involvement of the ear in the presence of systemic autoimmune conditions. Sensorineural hearing loss is the most common audiovestibular symptom associated with systemic autoimmune diseases, although conductive hearing impairment may also be present. Hearing loss may present in a sudden, slowly, rapidly progressive or fluctuating form, and is mostly bilateral and asymmetric. Hearing loss shows a good response to corticosteroid therapy that may lead to near-complete hearing restoration. Vestibular symptoms, tinnitus, and aural fullness can be found in patients with systemic autoimmune diseases; they often mimic primary inner ear disorders such as Menière’s disease and mainly affect both ears simultaneously. Awareness of inner ear involvement in systemic autoimmune diseases is essential for the good response shown to appropriate treatment. However, it is often misdiagnosed due to variable clinical presentation, limited knowledge, sparse evidence, and lack of specific diagnostic tests. The aim of this review is to analyse available evidence, often only reported in the form of case reports due to the rarity of some of these conditions, of the different clinical presentations of audiological and vestibular symptoms in systemic autoimmune diseases

Paediatric Behcet's Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics

Behçet’s disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, especially into monogenic mimics of BD. Although a rare condition, paediatric BD should be considered an important differential diagnosis, especially in cases with similar phenotypes. Emerging reports of monogenic mimics have indicated the importance of genetic testing, particularly for those with early-onset, atypical features and familial aggregation. Treatment options ought to be evaluated in a multidisciplinary setting, given the complexity and diverse organ involvement. Owing to the rarity of the condition, there is a paucity of paediatric trials; thus, international collaboration is warranted to provide consensus recommendations for the management of children and young people. Herein, we summarise the current knowledge of the clinical presentation, immunopathogenetic associations and disease mechanisms in patients with paediatric BD and BD-related phenotypes, with particular emphasis on recently identified monogenic mimics