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Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort

Publication Year: 2025 Source: Front Immunol PMID: 40692796

INTRODUCTION: Cardiofaciocutaneous syndrome (CFCS) is a rare syndromic disorder caused by germline mutations affecting the RAS/MAPK pathway. It is characterized by distinctive craniofacial dysmorphism, congenital heart defects, skin abnormalities, gastrointestinal dysfunction, neurocognitive impairment, and epilepsy. Emerging evidence suggests an association with hypogammaglobulinemia, but a comprehensive characterization of immunological abnormalities in …

Comparison of the FDA and EMA guidance on drug development in ulcerative colitis: an expert panel review

Publication Year: 2025 Source: J Crohns Colitis PMID: 40692351

BACKGROUND AND AIMS: The Food and Drug Administration (FDA) and European Medicines Agency (EMA) ensure the safety, efficacy, and security of treatments, including therapies for immune-mediated disorders such as inflammatory bowel disease (IBD). Their clinical trial guidelines aid sponsors in designing robust studies. While the EMA updated its guidelines for …

North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition position paper on the therapeutic drug monitoring in pediatric inflammatory bowel disease

Publication Year: 2025 Source: J Pediatr Gastroenterol Nutr PMID: 40692184

Inflammatory bowel diseases (IBD) require effective therapies to prevent morbidity and maintain quality of life. The introduction of biologic agents, beginning with monoclonal antibodies targeting tumor necrosis factor (TNF) alpha, has launched a new era of advancements that have markedly improved short- and long-term outcomes of Crohn's disease and ulcerative …

TIM-3 in Prostate Health: A Crucial Factor in the Microbiome-Immune Balance

Publication Year: 2025 Source: Immunol Invest PMID: 40692181

This review highlights the emerging role of the immune checkpoint receptor T cell immunoglobulin and mucin-domain containing-3 (TIM-3) as a crucial modulator in the prostate's microbiome-immune axis, with significant implications for prostate-related diseases such as prostatitis, benign prostatic hyperplasia (BPH), and prostate cancer. These conditions reflect the prostate's susceptibility to …

FMO5 plays a sex-specific role in goblet cell maturation and mucus barrier formation

Publication Year: 2025 Source: Cell Mol Gastroenterol Hepatol PMID: 40692013

BACKGROUND AND AIMS: The intestine plays a key role in metabolism, nutrient and water absorption, and provides both physical and immunological defense against dietary and luminal antigens. The protective mucosal lining in the intestine is a critical component of intestinal barrier that when compromised, can lead to increased permeability, a …

The therapeutic potential of mesenchymal stem cells in intestinal diseases: from mechanisms to clinical translation

Publication Year: 2025 Source: Stem Cell Res Ther PMID: 40691643

Current therapeutic interventions for intestinal pathologies, including anti-inflammatory agents, immunosuppressants, and surgical procedures, frequently incur substantial adverse effects, elevated recurrence rates, and suboptimal tissue regeneration. Cellular therapy has emerged as a paradigm-shifting strategy, capitalizing on regenerative potential and immunomodulatory properties. Mesenchymal stem cells (MSCs), distinguished by their potent immunoregulatory capacity …

Therapeutic impact of human trophoblast stem cells in peritoneal and pneumonia-induced sepsis in mice

Publication Year: 2025 Source: Stem Cell Res Ther PMID: 40691621

BACKGROUND: Sepsis is a complex and life-threatening disease process related to a systemic response to severe infection. Due to the challenges of treating patients with sepsis, new therapies are being investigated, including cell-based approaches. Trophoblast stem cells (TSCs) are immune privileged cells with immunomodulatory properties. Thus, we proposed that TSCs …

CD317 stabilizes TNFR1 and confers the anti-inflammatory functions of MSCs via NF-κB/TSG6 pathway

Publication Year: 2025 Source: Stem Cell Res Ther PMID: 40691615

BACKGROUND: Although both pre-clinical and clinical studies show promising outcomes, resulting in rapid growth of clinical trials of MSC-based therapies in recent years, the heterogeneity and therapeutic inconsistency of MSCs have severely hampered their clinical applications. Purifying homogenous MSC populations with enhanced specific functions represents one promising approach. We have …

The role of gastrointestinal PCR in inflammatory bowel disease flares: A double-edged sword or a diagnostic breakthrough?

Publication Year: 2025 Source: Indian J Gastroenterol PMID: 40691419

Inflammatory bowel disease (IBD), encompassing Crohn's disease (CD) and ulcerative colitis (UC), is characterized by chronic gastrointestinal inflammation, leading to unpredictable flares and substantial morbidity. Gastrointestinal polymerase chain reaction (GI-PCR) testing has emerged as a widely used diagnostic tool to identify enteric pathogens during IBD exacerbations. It is a novel, …

HIF-1α alleviates ferroptosis in ulcerative colitis by regulation of GPX4

Publication Year: 2025 Source: Cell Death Dis PMID: 40691131

Ferroptosis is an iron-dependent form of regulated cell death induced by the lethal accumulation of lipid peroxidation, while the precise mechanism of ferroptosis in the pathogenesis of ulcerative colitis (UC) remains to be elucidated. This study aimed to explore the potential effect of hypoxia inducible factor-1alpha (HIF-1alpha) on ferroptosis in …

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