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Severe gingival inflammation, which is uncommon in pediatric patients, often indicates underlying systemic conditions. Leukemia, autoimmune diseases, and allergic symptoms can cause gingivitis owing to systemic inflammat...

Inflammation-related diseases, including cardiovascular diseases, immune disorders, and infectious diseases, have high prevalence and disability rates, imposing heavy socioeconomic and healthcare burdens. Thus, elucidati...

BackgroundNumerous studies indicated inflammatory bowel disease (IBD) patients suffered from sleep disturbances. Although melatonin (MT) exerts positive effects on maintaining circadian rhythms and anti-inflammation, its...

Abstract Autoimmune diseases (AIDs) result from intricate interactions among genetic, environmental and immune factors, with emerging evidence underscoring the role of the central nervous system (CNS) in their pathogenes...

BackgroundBehçet’s disease is a multisystem inflammatory disorder whose diagnosis can be challenging due to overlapping features with other inflammatory conditions and primary immunodeficiencies (1). In patients with ...

Janus kinase (JAK) inhibitors represent a major advancement in the management of immune-mediated inflammatory diseases. A balanced approach that carefully weighs therapeutic benefits against potential risks is essential....

Background: Multiple meta-analyses have evaluated the effect of Helicobacter pylori ( H. pylori ) infection on the risk of inflammatory bowel disease (IBD), but their findings remain inconsistent. Objectives: To critical...

Gastrointestinal (GI) diseases are common multifactorial disorders involving chronic inflammation, epithelial barrier disruption, immune dysregulation, gut microbiota imbalance, and abnormalities in motility and gut–br...

Background Chronic relapsing diseases, such as ulcerative colitis, incur considerable long-term health burden to the patient and the state. Early interventions that reduce the rate of relapse could provide considerable b...

Abstract Objective Current diagnostic paradigms for Crohn’s disease (CD) activity assessment remain fragmented across imaging and laboratory modalities. This study seeks to investigate the diagnostic efficacy of intest...

Abstract Background: Colonoscopy is an essential procedure that allows screening for colorectal cancer and other lower bowel diseases. However, the procedure itself poses the risk of inducing bleeding and perforation tha...

Abstract Mediterraneibacter gnavus is a human symbiotic gut bacterium whose abundance often increases in patients with various diseases, such as active inflammatory bowel disease (IBD). However, the genetic factors gover...

Genetic alteration of the genes of cytoskeletal regulatory proteins (e.g., actin-related protein complex-1 [ARPC1]) results in severe immune and hematological defects. ARPC1B deficiency (ARPC1BD) is an immune-actinopathy...

BackgroundThe intestinal barrier is a critical interface between the host and the external environment, and growing evidence indicates that bidirectional crosstalk between the gut microbiota and the intestinal barrier is...

While studying familial celiac disease, we identified four individuals with a rare heterozygous loss-of-function variant in the highly conserved, early-evolved ABCF1 gene. In addition, the 246 individuals heterozygous fo...

Faiz Minhajuddin,1 Sean P Colgan,1,2 Ian M Cartwright1,2 1Mucosal Inflammation Program, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; 2VA Eastern Colorado Health Care System, Au...

ObjectiveEarly recognition of inborn errors of immunity (IEI) is critical to avoid morbidity and irreversible organ damage. Jeffrey Modell Foundation (JMF) warning signs have long guided and still guide clinical suspicio...

A 12-day-old full-term (FT) male presented with one day of diarrhea and respiratory distress. The exam was notable for hypothermia, tachycardia, and hypoxemia. Initial bloodwork showed leukopenia (3,400 cells/uL, absolut...

RELA-related disease is a rare, autosomal-dominant condition presenting with immune dysregulation and immunodeficiency. RELA encodes the p65 subunit, a component of the canonical NFκB pathway. The underlying pathogenesi...

NCKAP1L encodes hematopoietic protein-1 (HEM1), a component of the WASp family verproline-homologous protein (WAVE) actin regulatory complex, activated downstream of multiple immune receptors. HEM1 deficiency disrupts WA...

BackgroundChronic granulomatous disease (CGD) is characterized by defective neutrophil oxidative burst activity with subsequent susceptibility to catalase-positive organisms, invasive fungal infections, in addition to in...

Tissue resident memory CD4+ T cells (TRMs) populate mucosal sites and play a critical role in local immune responses. Gut TRM cells persist for extended periods in the gut mucosa where they rapidly respond to invading pa...

IntroductionReceptor-interacting serine/threonine-protein kinase 1 (RIPK1), a cytosolic protein, plays an essential role in signaling pathways responsible for inflammation and programmed cell death. In humans, two main c...

BackgroundComplex inflammatory phenotypes in children can pose significant diagnostic challenges, particularly when clinical, histopathologic, and immunologic findings do not conform to established diagnoses. We present ...