Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum.

Background/objectives: Adrenocortical tumors (ACTs), including adrenocortical adenoma (ACA) and carcinoma (ACC), represent 0.3-0.4% of pediatric tumors.

THOR: a TMB heterogeneity-adaptive optimization model predicts immunotherapy response using clonal genomic features in group-structured data.

With the increasing number of indications for immune checkpoint inhibitors in early and advanced cancers, the prospect of a tumor-agnostic biomarker to prioritize patients is compelling. Tumor mutation burden (TMB) is a widely endorsed biomarker that quantifies nonsynonymous mutations within tumor DNA, essential for neoantigen production, which, in turn, correlates with the immune response and guides decision-making. However, the general clinical application of TMB-relying on simple mutational counts targeted at a single endpoint-does not adequately capture the complex clonal structure of tumors nor the multifaceted nature of prognostic indicators.

High KIR diversity in Uganda and Botswana children living with HIV.

Killer-cell immunoglobulin-like receptors (s) are essential components of the innate immune system found on the surfaces of natural killer (NK) cells. The s encoding genes are located on chromosome 19q13.4 and are genetically diverse across populations.

ABO*cisAB allele with unusual phenotype in a Brazilian family.

Background: Among the alleles of the ABO system, cisAB and B(A) are the most intriguing due to their ability to encode a glycosyltransferase that can synthesize both A and B antigens. This dual activity leads to the formation of the AB phenotype, even in the presence of the O allele; resolution is achieved by molecular analyses.

Case Presentation And Methods: We describe herein a Brazilian family in which the mother (M42.

Increased Anion Exchanger-1 (Band 3) on the Red Blood Cell Membrane Accelerates Scavenge of Nitric Oxide Metabolites and Predisposes Hypertension Risks.

The erythrocyte membrane is highly specialized with ∼one million anion exchanger-1 (AE1) per cell for rapid membrane permeation of HCO3-(aq), as most blood CO2(g) is carried in this hydrated anionic form. People with the GP.Mur blood type have more AE1 on their erythrocyte membrane, and they excrete CO2(g) more efficiently.

Donor-derived cell-free DNA monitoring for early diagnosis of antibody-mediated rejection after kidney transplantation: a randomized trial.

Background And Hypothesis: Donor-derived cell-free DNA (dd-cfDNA) shows good diagnostic performance for the detection of antibody-mediated rejection (AMR) in kidney transplant recipients (KTR). However, the clinical benefits of dd-cfDNA monitoring need to be established. Early diagnosis of AMR at potentially reversible stages may be increasingly important due to emerging treatment options for AMR.

Identification of the Novel HLA-DRB3*02:185 Allele by Next-Generation Sequencing in a Post-Transplant Renal Patient.

The novel allele HLA-DRB3*02:185 differs from HLA-DRB3*02:02:01:02 by one nucleotide substitution in codon 191 of exon 4.

Chitosan-derived drug free "artificial beacon" simulating immunogenetic cell death cascade effector to initiate immune response for cancer therapy.

Immunogenetic cell death (ICD) is widely participated in tumor immune therapy. However, the stress responses triggered by individual ICD inducers are typically not strong enough to effectively kickstart an ICD effect and successful ICD necessitates a high level of ICD stimulus, which may be linked to dose-related toxicity. In this research, we developed a drug-free "artificial beacon" ATP/CSO@ECM that mimics the ICD cascade system to kickstart an immune response with cationic chitosan (CSO) as a bridge, which participated in integrating tumor antigens and functional damage-associated molecular patterns (DAMPs) into one effector by electrostatic interaction.

VaxOptiML: leveraging machine learning for accurate prediction of MHC-I and II epitopes for optimized cancer immunotherapy.

Cancer immunotherapy hinges on accurate epitope prediction for advancing vaccine development. VaxOptiML (available at https://vaxoptiml.streamlit.

Serotype 3 Streptococcus pneumoniae Escapes the Immune Responses Induced by PCV13 in Mice With High Susceptibility to Infection.

Background: Streptococcus pneumoniae (pneumococcus) is a common cause of respiratory and invasive infections in humans. PCV13, a pneumococcal conjugate vaccine used globally, is highly effective against diseases caused by pneumococcal serotypes included in its formulation. However, one of them, the serotype 3 (ST3) is still being relatively commonly isolated from patients, suggesting an escape from vaccine-induced immunity.

Autoimmune-Like Mechanism in Heart Failure Enables Preventive Vaccine Therapy.

Background: Heart failure (HF) is strongly associated with inflammation. In pressure overload (PO)-induced HF, cardiac stress triggers adaptive immunity, ablation or inhibition of which blocks disease progression. We hypothesized that PO-HF might fulfill the often-used criteria of autoimmunity: if so, the associated adaptive immune response would be not only necessary but also sufficient to induce HF; it should also be possible to identify self-antigens driving the autoimmune response.

Novel polymorphic and copy number diversity in the antibody IGH locus of South African individuals.

The heavy chain of an antibody is crucial for mediating antigen binding. IGHV genes, which partially encode the heavy chain of antibodies, exhibit vast genetic diversity largely through polymorphism and copy number variation (CNV). These genetic variations impact population-level expression levels.

Assessment of Inter-Laboratory Variability for Flow Cytometric Crossmatch Testing: Lessons Learned from Proficiency Surveys.

Detection of antibody directed against human leukocyte antigens (HLA) using a combination of flow cytometric crossmatch (FCXM) and antibody tests, is an important responsibility of Histocompatibility laboratories. Proficiency testing surveys utilize the results of these assays to assess concordance across multiple laboratories. In this study, we reviewed the ASHI Proficiency Testing (PT) antibody and crossmatching (AC) survey results obtained over a 6-year period, to evaluate the degree and nature of inter-laboratory FCXM and antibody assay variability.

The Novel HLA-DPB1*1327:01 Allele Identified by Next-Generation Sequencing in a Potential Haematopoietic Stem Cell Donor.

The novel allele HLA-DPB1*1327:01 has a non-synonymous mutation difference compared with HLA-DPB1*04:01:01.

Polymorphism in Pseudo-Exon 5 Defines the Novel HLA-DQB1*02:02:01:14 Allele.

The novel allele HLA-DQB1*02:02:01:14 differs from HLA-DQB1*02:02:01:01 by one nucleotide substitution in codon 233 in exon 5.

Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis.

Leptospirosis is caused by pathogenic leptospires, posing a significant public health problem. Host susceptibility to Leptospira infection is a multifactorial trait, and the host's genetic background can influence both the establishment of infection and the severity of the disease. Complement Factor H (FH) plays a crucial role in the interaction between pathogenic bacteria and the host.

Paired analysis of host and pathogen genomes identifies determinants of human tuberculosis.

Infectious disease is the result of interactions between host and pathogen and can depend on genetic variations in both. We conduct a genome-to-genome study of paired human and Mycobacterium tuberculosis genomes from a cohort of 1556 tuberculosis patients in Lima, Peru. We identify an association between a human intronic variant (rs3130660, OR = 10.

Monitoring circulating tumor DNA liquid biopsy in stage III BRAF-mutant melanoma patients undergoing adjuvant treatment.

Background: The introduction of adjuvant therapies for patients with resected cutaneous melanoma (CM) has increased the need for sensitive biomarkers for risk stratification and disease monitoring. This study aims to investigate the utility of circulating tumor DNA (ctDNA) assessment in predicting and reflecting disease status during adjuvant therapy.

Methods: We enrolled 32 patients with resected BRAF-mutated stage III CM receiving adjuvant targeted therapy or immunotherapy.

Cars pick up another passenger: Organ transplantation.

With over 30,000 patients having received CAR T cells as a treatment for malignancy, our experience in oncology has facilitated numerous efforts to adapt the CAR therapeutic platform for diseases and conditions beyond cancer. Recognition of their efficacy, where traditional small molecule or biologic therapies fail, has spurred multiple efforts leveraging CAR T cells for immune modulation in the setting of organ/tissue transplantation. In the present review, we discuss CAR T cell approaches that are currently under development, to target both humoral and cellular alloimmunity.