Juvenile idiopathic arthritis [JIA; Mendelian Inheritance in Man (MIM) 604302] is the most common chronic childhood arthritis, characterized by chronic articular findings of unknown origin, with heterogeneity in disease course and systemic involvement1,2. Epidemiologic studies based on different diagnostic criteria showed varying prevalence from 0.07 to 4.01 per 1000 children across populations, an increased risk for European descendants, and different subtype distributions among ethnic groups3,4. JIA is generally known as a complex genetic trait with non-Mendelian inheritance pattern possibly resulting from interactions of multiple genetic loci and environmental factors5. However, several studies have reported causative variants in the Laccase (multicopper oxidoreductase) domain-containing 1 ( LACC1 ; MIM 613409) gene in rare familial forms6,7,8. We present 17 patients (10 males and 7 females) from 7 families (5 with known parental consanguinity), each with 2–4 affected members diagnosed with JIA. This study was approved by the Institutional Review Board of Istanbul Technical University (MBG.22/2014) and carried out in compliance with the Declaration Helsinki. … Address correspondence to Dr. E. Tahir Turanlı, Dr. Orhan Öcalgiray Molecular Biology-Biotechnology and Genetics Research Centre, Istanbul Technical University, Ayazağa Campus, 34469 Maslak, Istanbul, Turkey. E-mail: turanlie{at}itu.edu.tr

Purpose. The oral microbiome is maintained by host- and microbe-derived factors. A shift in microbial composition, as a result of diseases related to the immune system, is the most important step in the development of oral and dental diseases. The aim of this study was to investigate the oral microbial composition of patients with Kostmann syndrome, who have severe neutropenia, compared with healthy children. Methodology. A group of nine Kostmann syndrome patients and a group of nine healthy controls participated. After clinical investigation, DNA from stimulated saliva specimens was examined by high-throughput sequencing of the V3–V4 hypervariable region of the 16S rRNA gene using Illumina sequencing. The QIIME software package was used for 16 S rRNA amplicon analysis, while the Greengenes database was used for taxonomic classification. Results. The periodontal pocket depths, plaque indices and bleeding-on-probing percentages and caries status on the deciduous teeth of the patients with Kostmann syndrome were statistically higher than those for the healthy controls. Patients with Kostmann syndrome had significantly lower bacterial diversity as compared to the controls. The presence of Firmicutes was statistically higher in patients with Kostmann syndrome, while that for Proteobacteria was higher in samples from the healthy controls (P1 % in at least 75 % of samples) in all groups, whereas the genus Porphyromonas was only detected as a member of the core microbiome in Kostmann patients. Conclusions. The evidence of lower bacterial diversity and differences in microbial profile for patients with Kostmann syndrome not only shows the impact of immune system-related diseases on oral microbiota, but also endorses the ecological plaque hypothesis proposed for the aetiology of oral diseases such as dental caries and periodontitis.

Turkey is one of the latest countries that COVID-19 disease was reported, with the first case on March 11, 2020, and since then, Istanbul became the epicenter of the pandemic in Turkey. Here, we reveal sequences of the virus isolated from three different patients with various clinical presentations. Nasopharyngeal swab specimens of the patients were tested positive for the COVID-19 by qRT-PCR. Viral RNA extraction was performed from the same swab samples. Amplicon based libraries were prepared and sequenced using the Illumina NextSeq platform. Raw sequencing data were processed for variant calling and generating near-complete genome sequences. All three genomes were evaluated and compared with other worldwide isolates. The patients showed various clinics (an asymptomatic patient, patient with mild disease, and with severe pulmonary infiltration). Amplicon-based next-generation sequencing approach successfully applied to generate near-complete genomes with an average depth of 2.616. All three viral genomes carried the D614G variant (G clade according to GISAID classification) with implications for the origin of a spread first through China to Europe then to Istanbul. Here, we report the viral genomes circulating in Istanbul for the first time. Further sequencing of the virus isolates may enable us to understand variations in disease presentation and association with viral factors if there is any. In addition, the sequencing of more viral genomes will delineate the spread of disease and will guide and ease the necessary measures taken to stem the spread of the novel coronavirus.

Familial Mediterranean Fever (FMF) is the first described and most prevalent monogenic autoinflammatory periodic fever syndrome worldwide. The disease is caused by pathogenic variants in the MEFV (Mediterranean fever) gene, which lead to dysregulated innate immune responses and a persistent hyperinflammatory state. Despite extensive genetic characterization, the molecular mechanisms linking MEFV mutations to aberrant inflammation remain incompletely understood. Moreover, substantial clinical heterogeneity-manifested as incomplete penetrance, variable expressivity, and modulation by additional autoinflammatory genes-indicates that FMF pathogenesis extends beyond classical Mendelian inheritance. Emerging evidence suggests that epigenetic mechanisms, including DNA methylation, histone modifications, and microRNA regulation, may contribute to phenotypic variability, disease severity, and therapeutic response; however, available data are limited and occasionally conflicting. This review provides a comprehensive and up-to-date overview of the genetic, molecular, and epigenetic factors implicated in FMF, highlights unresolved controversies, and proposes future research priorities aimed at elucidating disease mechanisms and improving clinical management.