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Early diagnosis of primary immunodeficiency (PID) remains a significant clinical challenge, often delaying treatment and increasing the risk of severe infections. Accurate identification of antibody (Ab) deficiencies typ...

Abstract Objective Intestinal organoids serve as important tools for drug screening, but the extent to which they recapitulate in vivo tissue microenvironments and drug responses remains inadequately evaluated. This s...

Abstract Background The genetic basis of autism spectrum disorder (ASD) is complicated by high heritability and substantial heterogeneity, in which de novo variants and polygenic burden from common variants have not been...

The exposure of frozen biological samples to the high-energy electron beam in a cryo-electron microscope commonly leads to beam-induced sample motion and distortions. Previously, we described Unblur, software to correct ...

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

BackgroundIL-2Rβ (CD122) is essential for IL-2 and IL-15 signaling and for natural killer (NK) and T cell homeostasis. We and others have recently described biallelic loss-of-function IL2RB variants, primarily affecting...

Deficiency in ELF4, X-linked (DEX) is a monogenic autoinflammatory disorder caused by loss-of-function (LOF) mutations in the ETS transcription factor ELF4. This rare disorder primarily affects young, male patients due t...

Abstract Background Spinocerebellar ataxias comprise a group of neurodegenerative disorders characterized by progressive cerebellar ataxia with clinical and genetic heterogeneity. Autosomal recessive spinocerebellar atax...

Yu Luo,1 Suning Huang,1,2 Haichuan Xie,3 Bei Zhang,3 Fei Ma,1– 4 Yanting Lin,1– 4 Yan Ning,1– 4 Jiaman Wu1– 4 1Graduate School, Guangzhou University of Chinese Medicine, Guangzhou, Guangdong, 510405, People’s R...

BackgroundGranular cell astrocytoma (GCA) is a rare, morphologically distinct variant of IDH-wildtype glioblastoma that can appear deceptively low-grade yet behave aggressively. Its molecular features remain poorly defin...

BackgroundAlthough drug rash with eosinophilia and systemic symptoms (DRESS) and anticonvulsant hypersensitivity syndrome are well-known complications of anti-seizure medications (ASMs), lesser-known immunologic complica...

Abstract Real-time dynamic imaging of microbubbles is crucial for understanding their microscale biophysical interactions and advancing ultrasound therapy. Despite progress in time-resolved optical imaging, existing tech...

The results of whole-body exposure to airborne particulate matter <10 µm on the cornea of BALB/c mice, how their natural resistance to Pseudomonas aeruginosa (PA) keratitis is impacted, and whether plastoquinonyl-d...

Interferon regulatory factor-2-binding protein-2 (IRF2BP2) is a transcriptional regulator affecting diverse cellular functions, including cell differentiation and apoptosis. It plays an important role in lymphocyte and m...

Galactosemia involves different forms of inborn errors of metabolism affecting galactose processing. Different from type 1 and type 2, respectively, related to GALT and GALK1 defects, type 3 galactosemia is due to bialle...

Abstract Locoregional CAR-T delivery is increasingly explored for glioblastoma to improve intracranial tumor exposure; however, organ-level biodistribution kinetics after intracranial administration remain poorly quantif...

Artemis-deficient severe combined immunodeficiency (SCID) is a rare autosomal recessive disorder caused by pathogenic variants in DCLRE1C, which encodes ARTEMIS, a DNA repair endonuclease essential for V(D)J recombinatio...

BackgroundInterleukin-2–inducible T cell kinase (ITK) deficiency classically presents with EBV-driven lymphoproliferation and lymphoma, but emerging data suggest broader phenotypes of immune dysregulation. The pathogen...

IntroductionAlthough immune responses to Bacillus Calmette–Guérin (BCG) vaccination and susceptibility to mycobacterial infection vary across individuals, the underlying cellular mechanisms regulating this heterogenei...

Abstract Background Finding non-small cell lung cancer (NSCLC) patients who potentially benefit from immune checkpoint inhibitors (ICIs) is a crucial and challenging process in immunotherapy. Investigating predictive bio...

Background and AimsPediatric lymphoproliferative disorders (LPD), both malignant and nonmalignant, may conceal underlying inborn errors of immunity (IEI), yet systematic screening is rarely performed. We hypothesized tha...

IntroductionThe ERCC2 gene, located on chromosome 19, is essential for transcription and DNA repair via its protein product, XPD. Mutations in ERCC2 cause disorders such as trichothiodystrophy-1, xeroderma pigmentosum, C...

BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the JC virus, and idiopathic PML is increasingly recognized. Deeper profiling of such patients often reveals oc...

This study aimed to isolate and characterize lactic acid bacteria (LAB) from traditional Lithuanian fermented foods and evaluate their probiotic potential, safety, and ability to produce tryptophan. Around 20 LAB isolate...