Erişkinlerde İnflamatuvar Barsak Hastalığı Ve Çölyak Hastalığı Tanıları İle İzlenen Hastalarda LRBA (Lps-Responsive Beige-Like Anchor) Eksikliği İle İlişkili Primer İmmün Yetmezlik Varlığının Araştırılması

In the present study, it was aimed to investigate the presence of the primary immunodeficiency disorder associated with LRBA deficiency in adult patients followed-up with diagnosis of inflammatory bowel disease (IBD) and celiac disease (CD). For this purpose, CTLA-4 and LRBA protein expression levels of activated peripheral blood CD4+CD25highCD127low/-FoxP3+ Treg cells belonging to 35 patients (CD= 11 and IBD = 24) and 13 healthy controls, were evaluated by flow cytometric analysis. According to comparison between healthy controls and sick individuals; Treg percentages were found to have lower levels in the patient group (controls: 5.8%, sick individuals: 5.1%; p = 0.19), especially in IBD group (IBD: 4.5%, CD: 5.2%). Median FI levels for CTLA-4 and LRBA expression were compared to healthy controls in each experiment by applying the correction ratio; low levels of LRBA expression was determined in 12 (50%) of the patients with IBD. According to scatter-plot graph of all individuals for CTLA-4 and LRBA expressions; there was a linear correlation between the flow-cytometric expression of the two molecules. A new heterozygous-inherited genetic variant in the LRBA gene was detected in one among 4 individuals (which have low LRBA expression) at the primary immunodeficiency panel via next generation sequencing analysis. These results illuminate the some factors or changes associated with the immune-related enteropathy of the intestinal system, which is considered to be the largest secondary lymphoid organ. Findings should be evaluated in the other patients have low-expression for LRBA (and maybe in another larger cohort). It is considered that it may provide useful data in terms of diagnosis, etiology and treatment course of the immune-related enteropathy, especially IBD.Bu çalışmada, inflamatuvar barsak hastalığı (İBH) ve çölyak hastalığı(ÇH) tanıları ile takip edilen erişkin hastalarda LRBA eksikliği ile ilişkili primer immün yetmezlik hastalığı varlığının araştırılması amaçlanmıştır. Bu amaçla çölyak hastalığı (n=11) ve inflamatuvar barsak hastalığı (n=24) olan 35 hasta ve 13 sağlıklı kontrolün periferik kandaki, aktive edilen CD4+CD25highCD127low/-FoxP3+ Treg hücrelerindeki CTLA-4 ve LRBA protein ifadeleri akım sitometrik yöntemi ile değerlendirilmiştir. Sağlıklı kontroller ve hasta bireyler karşılaştırıldığında; Treg yüzdeleri İBH grubunda daha belirgin olmak üzere (İBH: %4,5, ÇH: %5,2) hasta grubunda daha düşük bulunmuştur (kontroller: %5,8, hasta bireyler: %5,1; p= 0,19). Ortanca CTLA-4 ve LRBA ifadeleri (FI) her deneydeki sağlıklı kontrollere göre düzeltme oranı uygulanarak karşılaştırıldığında; İBH olan hastaların 12’sinde (%50) düşük LRBA ifadesi saptanmıştır. Hasta ve sağlıklı bireylerin CTLA-4 ve LRBA ifadelerine göre saçılım grafiği incelendiğinde bu iki molekülün ifadeleri açısından lineer bir korelasyon saptanmıştır. LRBA ifadesi düşük tespit edilmiş 4 bireyin değerlendirildiği primer immün yetmezlik paneline yönelik yeni nesil dizileme analizinde İBH olan bir hastada LRBA geninde heterozigot kalıtılan yeni bir varyant saptanmıştır. Bu durum en büyük sekonder lenfoid organ olarak kabul edilen intestinal sistemin enteropati durumu ile ilişkili faktörler veya değişiklikler hakkında bilgi vermektedir. Diğer düşük ifadeye sahip bireylerin ve daha geniş başka hasta serilerinde ayrıntılandırılması gereken bu bilgiler İBH başta olmak üzere immün aracılı enteropatisi olan bireylerde tanı, etiyoloji ve tedavi sürecinde faydalı bilgiler verecektir

Management of Behcet's syndrome

Abstract Behcet's syndrome (BS) is a variable vessel vasculitis with heterogeneous clinical features. Skin, mucosa and joint involvement can cause impairment of quality of life but do not cause permanent damage whereas untreated eye, vascular, nervous system and gastrointestinal system involvement can cause serious damage and even death. Management of BS as a multidisciplinary team enables a faster and more accurate diagnosis and well-integrated treatment strategies. Corticosteroids are the mainstay of therapy. Colchicine, AZA, ciclosporin-A, cyclophosphamide, IFN alpha, and tumour necrosis factor alpha inhibitors are other agents used as induction and/or maintenance therapy. Although biologic agents have been increasingly used, there are still unmet needs. Head-to-head comparison studies of some therapeutic options (e.g. TNF inhibitors vs IFN alpha in uveitis) are required. Novel therapeutic agents in the pipeline could change the standard of care for BS in the future.PubMe

Rare Occupational Cause of Nasal Septum Perforation: Nickel Exposure

Many etiologies are held accountable for nasal septum perforations. Topical nasal drug usage, previous surgeries, trauma, nose picking, squamous cell carcinoma, some rheumatological disorders such as granulomatosis with polyangiitis (Wegener granulomatosis), some infectious diseases such as syphilis and leprosy are among the causes of the perforations. Occupational heavy metal exposures by inhalation rarely may also cause nasal septum perforation. Here, we present a 29-year-old patient without any known diseases, who is a worker at a metallic coating and nickel-plating factory, referred for investigation of his nasal cartilage septum perforation from an otorhinolaryngology clinic. The patient questioning, physical examination and laboratory assessment about rheumatic and infectious diseases were negative. There was a metallic smell in the breath during the physical examination. The analysis showed serum nickel level at 31 mu g/l and urine nickel at 18 mu g/l (84.11 mu g/g creatinine). Other possible serum and urine heavy metal levels were within normal ranges. Nickel exposure is usually together with other heavy metals (chromium or cadmium), it is rarely alone. Nickel ingested by inhalation usually leads to respiratory problems such as reduced olfactory acuity, ulcers, septum perforation or tumors of the nasal sinuses. This case demonstrates the importance of occupational anamnesis and awareness of diagnosis

Interferon alpha might be an alternative therapeutic choice for refractory Neuro-Behçet's disease

Comments on Neuro-Behcet's DiseasePubMe

Is There An Overlap Of Antineutrophil Cytoplasmic Antibody-Associated Vasculitides With Igg4-Related Disease Or Not?

Wo

Do ANCA-associated vasculitides and IgG4-related disease really overlap or not?

Background: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) and immunoglobulin G4-related disease (IgG4-RD) have some common features. The co-occurrence/concurrence of AAV and IgG4-RD was recently published by the collaborative European Vasculitis Study Group. First, we aimed to investigate ANCA positivity of our IgG4-RD cohort. Second, a literature review of co-occurrence/concurrence of AAV and IgG4-RD was done. Methods: Data of 62 patients with IgG4-RD in Hacettepe Vasculitis Center Database were used. Patient dataset was designed to include demographic data, clinical characteristics, imaging and IgG4-RD, AAV and ANCA test results. At the next step, we performed a systematic literature review in PUBMED database covering the time period from 1976 until April 2018. Relevant publications were searched using these MeSH terms ''IgG4-related disease and Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis'', "IgG4-related disease and Eosinophilic Granulomatosis with Polyangiitis", "IgG4-related disease and Microscopic Polyangiitis" and "IgG4-related disease and Granulomatosis with Polyangiitis". Results: Three (10.3%) of 29 patients had low titer ANCA positivity. These three patients didn't have any findings of vasculitis and no granuloma was seen in biopsy. In the literature review, we found 17 cases had features of both IgG4-RD and AAV. These cases were re-evaluated according to the Comprehensive Diagnostic Criteria for IgG4-RD. ANCA were positive in 15 of 17 patients (88%). Conclusion: None of our IgG4-RD patients overlapped with AAV. Only two patients in the literature review seemed to be fully compatible with both diseases. Even though AAV and IgG4-RD share similar clinical features, we think this might be a co-occurrence instead of a histopathological link.PubMe