Somatic mosaicism in genetic errors of immunity.

Genetic mosaicism in somatic cells can lead to the presence of pathogenic variants in a subset of immune cells causing genetic errors of immunity (GEI), often phenocopying germline inborn errors of immunity (IEI). Over the last two decades significant progress has been made in the identification of these disorders in patients, including discovery of new diseases. Diagnosis of disease-causing somatic mosaicism provides a target for treatment and monitoring of patients and has implications for genetic counseling.

Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.

Signal transduction downstream of activating stimuli controls CD8+ T cell biology, however these external inputs can become uncoupled from transcriptional regulation in Primary Immune Regulatory Disorders (PIRDs). Gain-of-function (GOF) variants in STAT3 amplify cytokine signaling and cause a severe PIRD characterized by early onset autoimmunity, lymphoproliferation, recurrent infections, and immune dysregulation. In both primary human and mouse models of STAT3 GOF, CD8+ T cells have been implicated as pathogenic drivers of autoimmunity.

Health care professionals' views on a new postpartum contraception audiovisual animation: a survey.

Background: The postpartum period is a high-risk time for unintended pregnancy. We developed a 2-minute audiovisual animation on postpartum contraception (PPC) including the return of fertility after birth for patients. The aim of our study was to determine the views of healthcare professionals (HCPs) involved in pregnancy care on the animation and to identify facilitators and barriers to its implementation into routine pregnancy care pathways.

AI-powered fraud and the erosion of online survey integrity: an analysis of 31 fraud detection strategies.

The proliferation of AI-powered bots and sophisticated fraudsters poses a significant threat to the integrity of scientific studies reliant on online surveys across diverse disciplines, including health, social, environmental and political sciences. We found a substantial decline in usable responses from online surveys from 75 to 10% in recent years due to survey fraud. Monetary incentives attract sophisticated fraudsters capable of mimicking genuine open-ended responses and verifying information submitted months prior, showcasing the advanced capabilities of online survey fraud today.