Buscar recursos académicos

Forkhead box P3 (FOXP3) is the master transcription factor of regulatory T cells (Tregs) and is essential for maintaining immune tolerance. FOXP3 is stably expressed in Tregs, driving their suppressive function, and it i...

We previously reported that inherited human retinoic acid-related orphan receptor gamma T (RORγT) deficiency underlies mycobacterial disease and chronic mucocutaneous candidiasis (CMC) in seven patients from three ances...

Abstract Background Developing regenerative therapies to restore kidney function in patients with progressive renal disease represents a major challenge for modern molecular nephrology. Kidney organoids, three-dimensiona...

Abstract Background Serum beta-human chorionic gonadotropin is routinely measured as a pregnancy marker in women of reproductive age prior to diagnostic and therapeutic interventions. Although a positive result commonly ...

Environmental factors such as air pollution, weather events, and ambient toxins are major contributors to human disease, with disproportionate impacts on vulnerable populations. In Puerto Rico, chronic exposure to air po...

A growing number of studies are now utilizing human organotypic brain slice cultures (OBSC), enabled by improved long-term culture protocols that support the investigation of human-specific cellular physiology. Human OBS...

Pelvic inflammatory disease (PID) is a complex multifactorial infectious disorder of the female reproductive tract, associated with severe long-term sequelae including infertility, ectopic pregnancy, and chronic pelvic p...

Abstract Background Triggering receptor expressed on myeloid cell-2 (TREM2) signaling promotes disease-associated microglia (DAM) and phagocytosis in neurodegenerative diseases. Traditional anti-TREM2 agonist antibodies ...

Abstract Globally, shrimp aquaculture is a vital source of food, but disease outbreaks present serious economic challenges. Traditional diagnostic techniques, such as visual inspection and polymerase chain reaction (PCR)...

BackgroundThe research on human microbiota-associated (HMA) animal models is an important tool for studying the human microbiome and holds great potential for elucidating disease mechanisms and microbe-based therapeutic ...

IntroductionAlzheimer’s disease (AD) is strongly associated with cerebrovascular dysfunction and impaired glymphatic clearance. These dysfunctions may precede, contribute to, and interact bidirectionally with AD pathol...

Abstract Background Inflammatory bowel disease (IBD) represents a group of chronic and relapsing inflammatory disorders of the gastrointestinal tract, primarily encompassing Crohn’s disease (CD) and ulcerative colitis ...

Abstract Background As of 2025, cardiovascular disease (CVD) still remains a major threat to human life. Acute coronary syndrome (ACS) is still considered life-threatening and therefore prompt diagnosis and immediate int...

Growing evidence has directly linked the gastrointestinal tract, gut microbiota, and central nervous system, forming the gut-brain axis, a process that has been described as a key mechanism in regulating neurological pro...

Abstract The genomic locus that encodes the Leucine-rich repeat kinase 2 (LRRK2) gene is highly pleiotropic and associated with Parkinson’s disease (PD). Coding variants associated with risk of PD act as gain of functi...

Abstract Neuroinflammation is a pathological feature of neurodegenerative diseases like Alzheimer’s disease and ALS. Cytoplasmic dsRNA (cdsRNA) triggers a type-I interferon response in human neural cells, leading to th...

IntroductionMacrophages play a key role in inflammatory diseases. We aimed to identify long noncoding RNAs that regulate pro-inflammatory activation of human macrophages. MethodsWe performed human lncRNA microarray analy...

We performed a single-center retrospective analysis of chronic granulomatous disease (CGD) autopsy reports to better understand causes of death, end-organ damage, and disease pathophysiology. Forty-four autopsies of CGD ...

BackgroundCommon variable immunodeficiency (CVID) is the most prevalent inborn error of immunity. Although CVID is most commonly diagnosed in adulthood, a subset of patients is diagnosed in childhood. Autoimmune and end-...

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...

T follicular helper (Tfh) cells have been reported to have multiple trajectories, including terminally differentiated Tfh, memory-like circulatory Tfh (cTfh), and, most recently, induced T follicular regulatory (iTfr) ce...

BackgroundNFKB1 encodes for the p105/p50 nuclear factor-kappa-B (NF-kB1) transcription factors. Heterozygous mutations in NFKB1 may lead to NF-kB1 insufficiency, which may result in a multiorgan disease. Here, we aimed t...

BackgroundLoss-of-function variants in magnesium transporter 1 (MAGT1) cause X-linked Immunodeficiency with Magnesium defect, Epstein-Barr virus infection, and Neoplasia (XMEN) disease through impaired glycosylation. The...

BackgroundIntravenous immunoglobulin (IVIg) products are widely used to treat immune deficiency and autoimmune disorders; however, infusion-related reactions remain a significant clinical concern. Differences in tolerabi...