A case with febrile attacks and vasculopathy associated with ADA2 and MEFV pathogenic variants.

Deficiency of adenosine deaminase 2 (DADA2), caused by recessive mutations in the adenosine deaminase 2 (ADA2) gene, results in cutaneous or systemic vasculitis with variable clinical manifestations. There is only one other case in literature carrying both ADA2 and MEFV gene pathogenic variants. Here we report the second case that carries both ADA2 and MEFV pathogenic variants, presenting with characteristic phenotypes of both familial Mediterranean fever (FMF) and DADA2.

Heat Shock Proteins in Behçet Syndrome.

Behçet syndrome (BS) is a systemic vasculitis of unknown etiology that affects the skin, mucosa, joints, eyes, central nervous system, gastrointestinal system, arteries, and veins. It is generally believed to have a complex genetic background where both innate and adaptive immune systems are activated through environmental factors, such as infections, and auto-antigens. Heat shock proteins (HSPs) are highly conserved and immunogenic endogenous proteins that are thought to play both an enhancing and regulating role in several autoimmune and inflammatory diseases, such as rheumatoid arthritis, juvenile idiopathic arthritis, and Type I diabetes.

Maternal neglect results in reduced telomerase activity and increased oxidative load in rats.

A growing number of studies in humans have linked chronic stress, particularly during early life, to telomere shortening and increased oxidative stress. The effect of stress on telomerase activity, however, is understudied. Given the importance of telomere attrition in a wide range of diseases and immunosenescence, further research to elucidate the mechanisms by which stress alters telomere dynamics is required.

Peripheral blood mononuclear cell proteome profile in Behçet's syndrome.

Behçet's syndrome (BS) is a systemic inflammatory disorder with unknown etiology. Investigation of proteome profiles of disease specific cells facilitates our understanding of the processes and related molecular pathways, especially in disorders like BS with complex inheritance pattern and clinical heterogeneity. In the current study, we evaluated the peripheral blood mononuclear cells (PBMCs) proteome of 59 patients with BS (33 in active and 26 in inactive phases) and of 28 healthy controls using two-dimensional fluorescence difference gel electrophoresis (2D-DIGE).

Correction to: Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

The second affiliation of the corresponding author Eda Tahir Turanlı was incorrectly published as İstanbul Medeniyet University instead of Istanbul Technical University.

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated disease genes. Here, we report a cross-sectional study on targeted Next-Generation Sequencing (NGS) screening in patients with suspected sAIDs to determine the diagnostic utility of genetic screening.

Role of genetics in pediatric rheumatology.

Pediatric rheumatology includes autoinflammatory monogenic diseases, autoinflammatory multifactorial diseases with complex inheritance, and diseases with uncertain clinical diagnosis or undefined conditions, even though they show signs of autoinflammation. Most of these diseases are systemic; it is important to diagnose patients promptly and definitively and to select proper treatment options based on the diagnoses. Clinical observation and acute-phase responses are usually sufficient for diagnosis; however, genetic analyses can provide supportive data for definite diagnosis and treatment, especially for rare monogenic diseases.