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BackgroundThyroid autoimmunity (TAI) is frequently reported in women with polycystic ovary syndrome (PCOS), yet its clinical relevance for cardiometabolic and androgenic severity remains uncertain. We evaluated whether T...

Background and aimsLiver sinusoidal endothelial cells (LSECs) have a key role in maintaining organismal homeostasis by scavenging blood-borne molecules and inducing specific immune tolerance to ingested antigens. The sca...

Anti-glutamic acid decarboxylase (anti-GAD) autoimmunity possess a poorly understood diversity in the development of neurological manifestations with or without diabetes mellitus (DM) association. A possible genetic cont...

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...

Heterozygous NFKB1 variants have been increasingly identified in patients with common variable immunodeficiency. These patients, however, often experience substantial immune dysregulation beyond humoral deficiency. NFKB1...

The IKAROS family of zinc finger transcription factors (IKZF1–4) plays a central role in lymphocyte development and immune regulation. Pathogenic IKZF1 variants produce a wide phenotypic spectrum related to whether the...

The application of Chimeric Antigen Receptor T-cell (CAR-T), CAR-engineered regulatory T cell (CAR-Treg) and hematopoietic stem cell (HSC) therapies has grown in recent years, driven by an increasing demand for robust, a...

Transposable elements (TEs) make up almost half of the human genome and are among its most densely methylated regions. Their epigenetic silencing is crucial for genomic stability and immune homeostasis, and accumulating ...

Abstract Background Autoantibody biomarkers are valuable tools used to diagnose and manage autoimmune diseases in dogs. However, prior publications have raised concerns over a lack of standardization and sufficient valid...

Immune checkpoint inhibitors (ICIs) have been game changer in cancer therapy but can trigger diverse immune-related adverse events (irAEs) that impact multiple organs. This review offers a unified perspective on irAE ris...

Acquired hemophilia A (AHA) is a rare, potentially life-threatening autoimmune bleeding disorder characterized by the development of inhibitory autoantibodies against factor VIII (FVIII). While most commonly diagnosed in...

Autoimmune diseases, such as systemic lupus erythematosus (SLE), are complex disorders characterized by an abnormal immune response. In these diseases, the immune system mistakenly identifies different body components as...

Abstract Juvenile idiopathic arthritis (JIA) is an umbrella term for a group of oligo- and poly-arthritic conditions that develop before 16 years of age. While the exact pathophysiology of JIA is still unknown, both gene...

We have shown that mice infected with mouse hepatitis virus A59 develop autoantibodies (autoAb) to liver and kidney fumarylacetoacetate hydrolase (FAH). Because it has been proposed that the immune system is stimulated b...

IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

Immune dysregulation can lead to autoimmunity and autoinflammation. The goal of treatment is to balance targeted therapies while avoiding infections or other side effects, which becomes complicated with multiple diagnose...

The nuclear factor kappa light-chain enhancer of activated B cells (NFKB1) pathway is a central regulator of inflammatory gene expression. NFKB1 haploinsufficiency can present with common variable immunodeficiency (CVID)...

Celiac disease (CD) and Hashimoto’s thyroiditis (HT) frequently coexist, suggesting that shared mechanisms of autoimmunity extend beyond the intestine. In CD, the pathogenic role of gluten is firmly established; in HT,...

Abstract Background This letter engages with the seminal review by Argyrakopoulou et al. Obesity and the Gut-Brain Axis in Type 1 Diabetes Mellitus: Terra Incognita? Curr Obes Rep, https://doi.org/10.1007/s13679-025-0065...

IntroductionPathogenic variants in the COPA gene are associated with autosomal-dominant autoimmune interstitial lung, joint, and kidney disease, a condition known as COPA syndrome. It is associated with a type I interfer...

BackgroundThe cytotoxic T lymphocyte-associated protein 4 (CTLA-4) is a well-known immune checkpoint inhibitor. Heterozygous germline mutations in CTLA4 in humans lead to immune deficiency, autoimmunity, auto-inflammatio...

LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency belonging to the spectrum of common variable immunodeficiency disorders, frequently associated with immune dysregulation, autoimmun...

BackgroundItchy E3 ubiquitin ligase deficiency (ITCH deficiency) is a rare monogenic immune dysregulation syndrome characterized by early-onset multisystem autoimmunity and significant morbidity and mortality. Only one p...

BackgroundThymoma is frequently associated with myasthenia gravis (MG), but the coexisting of stiff person syndrome (SPS) is exceedingly rare. This overlap syndrome poses diagnostic and therapeutic challenges, and its im...