Background: Recurrent aphthous stomatitis (RAS) is a common oral condition with a major impact on the quality of life. The condition is thought to be due to the overexpression of T helper-1(Th1)-related cytokines. Since interleukin-4 (IL-4) and its receptor (IL-4Rα) are antagonistic to Th-1 pathways, polymorphisms in their genes may also be involved in the pathogenesis of aphthous stomatitis.
Methods: Sixty-four patients diagnosed with minor RAS and 141 (age- and sex-matched) healthy controls were assessed for 3 single-nucleotide polymorphisms (SNPs) within the promoter region of the IL-4 gene (-1098G/T, -590C/T, and -33C/T), and 1 SNP in IL-4Rα gene (+1902 A/G).
Results: No significant differences were detected between the patient and the control group regarding IL-4 allele frequencies. However, the patient group demonstrated a higher frequency of IL-4 -590 CC genotype and a lower rate of IL-4 -590 TC genotype. The TCT, GTT, GCT, and GTC haplotypes of the IL-4 gene (-1098, -590, -33) were significantly more frequent in the patients and the GCC, and TTT haplotypes were more common in healthy controls. No significant differences were found in IL-4Rα gene polymorphism between the 2 groups.
Conclusions: Certain polymorphisms of IL4 gene could predispose individuals to RAS.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1080/08820139.2018.1480033 | DOI Listing |
J Perianesth Nurs
January 2025
Department of Anesthesiology and Reanimation, University of Baskent, Ankara, Turkey.
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, a common cause of recurrent fever in childhood, presents a challenge in both diagnosis and management. While initially considered a monogenic disorder, recent research has highlighted its complex genetic underpinnings, involving noncoding genome regions and immune-mediated cytokine dysregulation. This complexity underscores the need for comprehensive perioperative management strategies, particularly in surgical interventions such as tonsillectomy and adenoidectomy.
View Article and Find Full Text PDFBMC Pediatr
December 2024
Vanderbilt University School of Medicine, Nashville, TN, USA.
Background: Recurrent tonsillitis is a common indication for tonsillectomy in children and has phenotypic overlap with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. We sought to characterize symptoms associated with PFAPA among children undergoing tonsillectomy.
Methods: Parents/guardians of children undergoing tonsillectomy at Vanderbilt Children's Hospital over a six-week period were queried regarding symptoms of recurrent fever.
Reumatologia
November 2024
Department of Children's Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ukraine.
Systemic autoinflammatory diseases caused by dysregulation of the innate immunity are a known cause of recurrent fevers. We present the molecular diagnosis results of 12 children with recurrent fever, analyzing the correlation between molecular findings and clinical symptoms. No pathogenic variants confirming autoinflammatory disease were found.
View Article and Find Full Text PDFFront Pediatr
November 2024
Department of Pediatrics, Jinling School of Clinical Medicine, Nanjing Medical University, Nanjing, Jiangsu, China.
inflammatory bowel disease (IBD) in response to rituximab (RTX) has been documented on multiple occasions as a severe adverse effect. However, none of these reports mentioned any genetic variation associated with this complication. We describe the case of a 16-year-old patient with refractory nephrotic syndrome (NS) diagnosed at the age of 6 years, notably with a heterozygous mutation of the gene, who developed Crohn's disease (CD) following ten administrations of RTX.
View Article and Find Full Text PDFArthritis Rheumatol
December 2024
University of Cincinnati and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Objective: Syndrome of undifferentiated recurrent fevers (SURF) is characterized by recurrent fevers and autoinflammation without a confirmed molecular diagnosis of a hereditary recurrent fever syndrome, and not fulfilling criteria for periodic fever, adenitis, pharyngitis, aphthous stomatitis syndrome (PFAPA). The goal of this study was to characterize clinical features of patients with SURF compared to patients with PFAPA and to analyze their cytokine signature, genetic variations, and responses to treatment.
Methods: We enrolled 46 patients observed at Cincinnati Children's Hospital Medical Center.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!