Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Physical urban environment and cardiometabolic diseases in the five largest Bulgarian cities.

This study investigated the associations between residential environmental characteristics and the prevalence of cardiometabolic diseases in the five largest Bulgarian cities. Representative cross-sectional survey data (N = 4640 adults) was collected in Sofia, Plovdiv, Varna, Burgas, and Ruse. Participants self-reported diagnosis or medication intake for hypertension, ischemic heart disease (IHD), stroke, and diabetes mellitus, as well as domestic burning of solid fuel and having a domestic garden.

Sociodemographic inequalities in residential nighttime light pollution in urban Bulgaria: An environmental justice analysis.

Introduction: Outdoor nighttime light (NTL) is a potential anthropogenic stressor in urban settings. While ecological studies have identified outdoor NTL exposure disparities, uncertainties remain about disparities in individual exposure levels, particularly in Europe.

Aim: To assess whether some populations are disproportionately affected by outdoor NTL at their residences in urban Bulgaria.

Safety but limited efficacy of donor lymphocyte infusion for post-transplantation cyclophosphamide-treated patients.

The therapeutic efficacy of donor lymphocyte infusions (DLIs) given after allogeneic hematopoietic cell transplantation (HCT) is limited by risk of graft-versus-host disease (GVHD). Post-transplantation cyclophosphamide (PTCy) effectively prevents severe GVHD, but there are limited data on outcomes of DLIs given to PTCy-treated patients. We reviewed 162 consecutive PTCy-treated patients transplanted between 2015-2022 within the Center for Immuno-Oncology at the National Cancer Institute.