Pınar Ellergezen; Alev ALP; Sinan Çavun
Abstract
Background: Immune system has an important effect on pain-related disorders such as fibromyalgia syndrome (FMS). There is no specific laboratory technique for the diagnosis of FMS, but measuring serum proinflammatory cytokines may help. Objective: The purpose of our study was to determine the serum levels ...
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Background: Immune system has an important effect on pain-related disorders such as fibromyalgia syndrome (FMS). There is no specific laboratory technique for the diagnosis of FMS, but measuring serum proinflammatory cytokines may help. Objective: The purpose of our study was to determine the serum levels of immune mediators and their relationship with FMS symptoms. Methods: 25 healthy individuals and 29 FMS patients receiving pregabalin 150 mg/day for a minimum of 3 months were included in this study. FMS patients were diagnosed according to diagnostic criteria of the American College of Rheumatology (ACR 2010). Widespread pain index (WSI), fatigue, waking unrefreshed, cognitive symptoms, somatic symptoms, and Fibromyalgia Impact Questionnaire (FIQ) scores were evaluated in patients with FMS. Serum levels of proinflammatory cytokines (IL-2, IL-6, IL-12, IL-17, IFN-γ, TNF-α) were assessed using enzyme-linked immunosorbent assay (ELISA). Results: Proinflammatory cytokine levels were higher in the control group than patients with FMS (p <0.05). A positive correlation was found between age and WSI (P=0.037). In addition, a significant positive relationship was determined between IL-17 level and waking unrefreshed (P=0.049). There was no significant relationship between other cytokines and clinical findings. Conclusion: Lower proinflammatory cytokine levels identified in FMS patients may be related to pregabalin treatment, and there may be an impairment in the inflammatory response. On the contrary, IL-17 showed a positive correlation with waking unrefreshed.
Farhad Abolnezhadian; Sara Iranparast; Fatemeh Ahmadpour
Abstract
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we ...
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Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we reported a case of identical twin brothers with a novel STK4 mutation, one of whom showed clinical manifestations associated with this mutation with a delay of two years. The mutation in the STK4 gene was identified employing Whole Exome Sequencing (WES), and we described the probable reasons for this delay. We found that the STK4 genetic defect caused almost the same clinical symptoms of immunodeficiency in the twin brothers. Meanwhile, the severity of the disease was higher in one of them, which may be due to extra genetic defect in LRBA, and likely differences in the percentage of B lymphocyte population and CD4+/ CD8+ state.
