Buscar recursos académicos

Background and AimsCHARGE syndrome (OMIM#214800) is a rare hereditary monogenic disease with an autosomal-dominant pattern of inheritance. It is characterized by multiple congenital malformations and is caused by pathoge...

ABSTRACT: Introduction and aims: To provide the research progress on the cGAS-STING signalling pathway and its related roles in various oral diseases. Methods: We reviewed the recent research on cGAS-STING in PubMed. Th...

The clinical management of autoimmune liver diseases is frequently complicated by the concomitant presentation of hepatitic and cholestatic features, an entity clinically designated as Overlap Syndrome. While the majorit...

Autoimmune rheumatic diseases (ARDs), often characterized by pain, constitute a diverse group of autoimmune conditions involving inflammation-mediated injuries to bones, joints, surrounding connective tissues, and occasi...

Lysine lactylation (Kla) is a novel form of post-translational modification. It utilizes lactate as its core substrate. Through an enzymatic regulatory network, it mediates modifications of both histones and non-histone ...

Ferroptosis is a form of regulated cell death driven by iron-dependent lipid peroxidation, which plays a pivotal role in regulating the inflammatory-immune microenvironment of central nervous system (CNS) diseases. Mount...

Background and AimMost infections are innocuous in most individuals, and most infectious diseases are confined to specific organs. Inborn errors of tissue-intrinsic, non-leukocytic immunity underlie some organ-specific i...

Inborn errors of immunity (IEI), once considered rare, are more common than previously thought, affecting up to 1:1000 individuals, with 555 IEI identified involving variants in 546 genes. This expanded genetic and clini...

Allergic rhinitis (AR), asthma, and their combined allergic rhinitis and asthma syndrome (CARAS) frequently coexist. However, the underlying pathophysiological and metabolic mechanisms, as well as reliable diagnostic dif...

BackgroundAsthma is traditionally conceptualized as a T helper 2 (Th2)-mediated inflammatory airway disease. However, increasing evidence suggests that primary immune dysregulation may underlie or phenotypically mimic as...

BackgroundActivated phosphoinositide 3-kinase syndrome (APDS) is a rare inborn error of immunity with an autosomal-dominant inheritance pattern that leads to immune dysregulation. Presently, the natural history of diseas...

Psoriasis is a common chronic inflammatory skin disorder frequently accompanied by multisystem involvement, with increasing concern regarding its association with renal impairment. The advent and widespread use of biolog...

Abstract Immune system dysregulation is implicated in a wide range of human diseases, including cancer. Genetic studies have shown evidence of a link between immune diseases and cancer; therefore, deficits of immune syst...

Oral mucosal ageing represents a fundamental reprogramming of the tissue microenvironment, a dynamic process that underlies the functional decline and heightened disease susceptibility observed in the elderly. This revie...

IntroductionPrecision medicine emphasizes accurate patient stratification. However, existing molecular frameworks often fail to fully capture the intrinsic heterogeneity of breast cancer (BRCA). This study aims to establ...

IntroductionSchnitzler syndrome (SchS) is a rare, late-onset, acquired autoinflammatory disorder characterized by recurrent urticarial lesions, monoclonal gammopathy and systemic inflammation. Although interleukin-1 (IL-...

BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...

The recognition of disorders of immune dysregulation, particularly those presenting with lymphoproliferation and systemic autoimmunity (International Union of Immunological Societies [IUIS] Group 4.6), has markedly incre...

BackgroundSolid organ transplantation is an effective treatment for end-stage organ diseases, including renal, hepatic, cardiac, and pulmonary failure (1). Long-term graft survival depends on sustained immunosuppression;...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

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...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a noninfectious interstitial lung disorder characterized by granulomatous inflammation and lymphoid proliferation. It is most frequently identified...

The effectiveness of both, trials aimed at counteracting the sepsis-associated inflammation and anti-tumor vaccines has, up to date, been limited. These limitations may be related to the fact that in sepsis and cancer, t...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...