Tumor Necrosis Factor Alpha-308 G/A And Interleukin 1 Beta-511 C/T Gene Polymorphisms In Patients With Scarring Acne

Background Acne is a chronic inflammatory skin disorder which may heal with scarring. Tumor necrosis factor alpha (TNF alpha) and interleukin 1 beta (IL-1 beta) are considered as the main responsible proinflammatory mediators of acne pathogenesis. Oversecretion of these cytokines was found to be associated with TNF alpha-308 G>A and IL-1 beta-511 C Aim To evaluate the association of TNF alpha-308 and IL-1 beta-511 gene polymorphisms with acne and postacne scarring susceptibility and acne severity. Methods Study subjects included 90 patients with acne vulgaris (31 males, 59 females; mean age: 19.6 +/- 3.7 years) and 30 healthy controls (11 males, 19 females; mean age: 19.2 +/- 5.1 years). Patients were sub-grouped on the basis of acne severity into mild, moderate, and severe acne groups and on the presence postacne scarring into scarring acne and nonscarring acne groups. Peripheral venous blood samples were obtained for performing real-time PCR analysis for detecting TNF alpha-308 and IL-1 beta-511 genotypic variants. Results Among patients, 21.7% (n = 26) had mild, 22.5% (n = 27) had moderate, 30.8% (n = 37) had severe, and 30% (n = 36) had scarring acne. Genotypic variants of TNF alpha-308 and IL-1 beta-511 did not statistically differ between acne patients and controls (P values: .245 and .466). When compared in terms of acne severity and the presence of postacne scarring, no statistical significance was observed regarding frequencies of genotypic variants related to the both TNF alpha-308 and IL-1 beta polymorphisms (P > .05). Conclusion TNF alpha-308 and IL-1 beta polymorphic variants are not associated with acne and postacne scarring susceptibility and acne severity.WoSScopu

Effect of Adipose Tissue-Derived Inflammatory and Proangiogenic Cytokines on Proliferative Diabetic Retinopathy

Objective: To determine the vitreous and serum concentrations of TNF-alpha, IL-6, VEGF, IL-1 beta, IL-8, IL-17, MCP-1, IL-1Ra, IL-10 in patients with proliferative diabetic retinopathy (PDR) and to investigate the effect of adipose tissue on the pathogenesis of PDR. Methods: Twenty-two patients with PDR were prospectively evaluated. Seven cadavers and 11 patients with idiopathic epiretinal membrane or macular hole served as the controls. Multiplex bead array technology was employed to assess the concentrations of the cytokines. Results: The intravitreal levels of VEGF, IL-8, IL-6 were significantly higher in PDR group than control groups. In PDR group, the levels of IL-17, IL-8, IL-6 were significantly elevated in the vitreous, whereas the intravitreal levels of IL-10, IL-1Ra were found to be significantly lower than the serum concentrations. No significant correlation was found between cytokine levels and body mass index (BMI), fasting blood glucose (FBG), or glycated haemoglobin (HbA1c) of diabetic patients. Conclusion: In PDR the balance between the intravitreal pro-and anti-inflammatory adipo-cytokines is disturbed in favor of proinflammatory and proangiogenic cytokines in the vitreous humour. This study supports the role of adipocytokines in vascular pathology in PDR. It seems that PDR is a local inflammatory disease. However, obesity may not be the root of the inflammatory mediators in PDR.WoSScopu

Clinical And Genetic Features Of Il12R Beta 1 Deficiency: Single Center Experience Of 18 Patients

Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by infections with weakly virulent mycobacteria (BCG and environmental mycobacteria), M. tuberculosis, Salmonella, candida and some other intracellular microorganisms. Nine different genetic defects have been defined to cause MSMD and IL-12R beta 1 deficiency is the most common form. We present here the clinical and genetic features of 18 patients with IL12R beta 1 deficiency diagnosed by surface expression of IL-12R beta 1 and Sanger's sequencing. Seventeen patients showed classical presentation (infections with BCG, salmonella and candida) while one patient experienced recurrent leishmaniasis. In all patients the percentage of activated lymphocytes with surface expression of IL12R beta 1 was <1% indicating that it is an effective method for the screening of these patients. Three recurrent mutations were responsible for 85% of our families. Prognosis was good in patients, in whom specific antimicrobial therapy was given before dissemination occurs, as well as prophylactic antimicrobial treatment when needed and IFN-gamma therapy for severe infectious episodes.WoSScopu

Elevated Interleukin-17A expression in amlodipine-induced gingival overgrowth

WOS:000563549300001PubMed: 32173874Background and objectives Amlodipine, a calcium channel blocker derivative, is frequently used by patients with high blood pressure. Studies reported that it can induce gingival overgrowth. However, the underlying mechanism is not fully described yet. Interleukin-17A (IL-17A) is known as a proinflammatory cytokine, but current studies indicate that it has a role in fibrotic disorders and epithelial-mesenchymal transition (EMT). The aim of this study was to figure out the possible role of IL-17A in amlodipine-induced gingival overgrowth. Materials and methods Twenty-nine (29) individuals participated in the study, and they were assigned into 3 groups based on medical status and clinical periodontal examination; 9 patients with amlodipine-induced gingival overgrowth, 11 patients with inflammatory gingival overgrowth, and 9 healthy individuals as a control group. Clinical periodontal parameters including plaque index (PI), gingival index (GI), and gingival overgrowth index (GOI) were recorded. Blood and gingival crevicular fluid (GCF) samples were obtained. Gingival tissues were taken by appropriate periodontal surgery following initial periodontal therapy. To detect IL-17A on tissue samples, immunohistochemistry (IHC) was performed. Quantitative analysis was done, and the expression level of IL-17A was given as the percent positively stained cells. Enzyme-linked immunosorbent assay (ELISA) kits were used to analyze IL-17A in serum and GCF samples. Results All recorded clinical parameters were significantly higher in gingival overgrowth groups compared with control. Evaluation of inflammation on tissue sections did not show any significant change within the groups. Immunohistochemistry findings showed that IL-17A expression was increased in amlodipine samples (81.90%) compared with control samples (42.35%) (P < .001). There was an increase in the inflammatory group (66.08%) which is significantly less than the amlodipine group (P < .05). IL-17A levels in serum and GCF samples were not different within the study groups. Conclusion In this study, elevated IL-17A expression regardless of inflammation shows that amlodipine might cause an increase of IL-17A in gingival tissues. This increase might induce fibrotic changes and EMT in gingival overgrowth tissues. The association of IL-17A with fibrosis and EMT in gingival tissues requires further investigation.Scientific and Technological Research Council of Turkey (TUBITAK), Ankara, TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK)The Scientific and Technological Research Council of Turkey (TUBITAK), Ankara, Turkey

Mutation in BTK Gene Causing an Atypical Presentation of XLA

Patients with X-linked agammaglobulinemia (XLA) are susceptible to bacterial infections particularly due to encapsulated pyogenic bacteria, organisms for which opsonization by antibody is a primary host defense. Additionally, enteroviral encephalitis and chronic diarrhea due to Giardia are seen in XLA. However, fungal infections are rarely present. In this report, we describe the case of a 17 month-old boy with absent BTK protein expression caused by a novel de-novo variant of the BTK gene, who presented with neutropenic fever and sepsis caused by Candida and Pseudomonas aeruginosa

Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience

Background Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex which generates reactive oxygen species (ROS), which are essential for killing pathogenic microorganisms, especially catalase-positive bacteria and fungi. Objective The objective of our study was to assess the clinical and laboratory characteristics, treatment modalities, and prognosis of patients with CGD. Methods We retrospectively reviewed 63 patients with CGD who have been diagnosed, treated, and/or followed-up between 1984 and 2018 in Hacettepe University, Ankara, in Turkey, as a developing country. Results The number of female and male patients was 26/37. The median age at diagnosis was 3.8 (IQR: 1.0-9.6) years. The rate of consanguinity was 63.5%. The most common physical examination finding was lymphadenopathy (44/63), growth retardation (33/63), and hepatomegaly (27/63). One adult patient had squamous cell carcinoma of the lung. The most common infections were lung infection (53/63), skin abscess (43/63), and lymphadenitis (19/63). Of the 63 patients with CGD, 6 patients had inflammatory bowel disease (IBD). Twelve of the 63 patients died during follow-up. CYBA, NCF1, CYBB, and NCF2 mutations were detected in 35%, 27.5%, 25%, and 12.5% of the patients, respectively. Conclusion We identified 63 patients with CGD from a single center in Turkey. Unlike other cohort studies in Turkey, due to the high consanguineous marriage rate in our study group, AR form of CGD was more frequent, and gastrointestinal involvement were found at relatively lower rates. The rate of patients who treated with HSCT was lower in our research than in the literature. A majority of the patients in this study received conventional prophylactic therapies, which highlight on the outcome of individuals who have not undergone HSCT

Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey

Leukocyte adhesion deficiency type I is a rare primary immunodeficiency disorder characterized by mutations in the ITGB2 gene encoding CD18. We present clinical and immunological features of 15 patients with leukocyte adhesion deficiency type 1 (LAD-1). Targeted next-generation sequencing was performed with either a primary immunodeficiency gene panel comprising 266 genes or a small LAD-panel consisting of five genes for genetic analysis. To measure the expression level of integrins on the leukocyte surface, flow cytometry analysis was performed. The median age of the patients at diagnosis was 3 (1–48) months. Eleven (73%) of the 15 patients had a LAD-1 diagnosis in their first 6 months and 14 (93%) patients had consanguineous parents. Delayed separation of the umbilical cord was present in 80% (n = 12) of the patients in our cohort, whereas omphalitis was observed in 53% (n = 8) of the patients. Leukocytosis with neutrophil predominance was observed in 73% (n = 11) patients. Nine distinct variants in the ITGB2 gene in 13 of the 15 patients with LAD-1 were characterized, two of which (c.305_306delAA and c.779_786dup) are novel homozygous mutations of ITGB2. Four unrelated patients from Syria had a novel c.305_306delAA mutation that might be a founder effect for patients of Syrian origin. Four (27%) patients underwent hematopoietic stem cell transplantation. Two patients died because of HSCT complications and the other two are alive and well. Early differential diagnosis of the patients is critical in the management of the disease and genetic evaluation provides a basis for family studies and genetic counseling

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

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