Intracellular concentration of ADA2 is a marker for monocyte differentiation and activation.

Adenosine, a critical molecule regulating cellular function both inside and outside cells, is controlled by two human adenosine deaminases: ADA1 and ADA2. While ADA1 primarily resides in the cytoplasm, ADA2 can be transported to lysosomes within cells or secreted outside the cell. Patients with ADA2 deficiency (DADA2) often suffer from systemic vasculitis due to elevated levels of TNF-α in their blood.

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4 IL-9-expressing cells.

Background: CD4 T cells play essential roles in adaptive immunity. Distinct CD4 T-cell subsets-T1, T2, T17, T22, T follicular helper, and regulatory T cells-have been identified, and their contributions to host defense and immune regulation are increasingly well defined. IL-9-producing T9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity.

Phase II study shows potential benefit of adenoviral vascular endothelial growth factor C (VEGF-C) and lymph node transfer in lymphedema.

Background: Breast cancer-related lymphedema (BCRL) is a common complication lacking medical treatment. Lymfactin® is an adenovirus type 5-based gene therapy and prolymphangiogenic growth factor vector that induces vascular endothelial growth factor C (VEGF-C) expression. Our aim was to evaluate the therapeutic effect of Lymfactin® with vascularized lymph node transfer (VLNT).

Clinical efficacy of SARS-CoV-2 Omicron-neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.

Immunocompromised individuals are at significantly elevated risk for severe courses of coronavirus disease 2019 (COVID-19). In addition to vaccination, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) neutralizing antibodies (nAbs) have been applied throughout the pandemic, with time of treatment onset and potency against the currently prevailing virus variant identified as relevant factors for medical benefit. Using data from the European Society for Immunodeficiencies (ESID) registry, the present study evaluated COVID-19 cases in three groups of patients with inborn errors of immunity (IEI; 981 agammaglobulinemia patients on immunoglobulin replacement therapy (IGRT); 8960 non-agammaglobulinemia patients on IGRT; 14 428 patients without IGRT), and the neutralizing capacity of 1100 immunoglobulin lots against SARS-CoV-2 ("Wuhan" and Omicron strains), throughout 3 years.

Dietary Caffeine and Brain Dopaminergic Function in Parkinson Disease.

Objective: This study was undertaken to investigate the effects of dietary caffeine intake on striatal dopamine function and clinical symptoms in Parkinson disease in a cross-sectional and longitudinal setting.

Methods: One hundred sixty-three early Parkinson disease patients and 40 healthy controls were investigated with [I]FP-CIT single photon emission computed tomography, and striatal dopamine transporter binding was evaluated in association with the level of daily coffee consumption and clinical measures. After a median interval of 6.

Associations between neighbourhood characteristics, physical activity and depressive symptoms: the Northern Finland Birth Cohort 1966 Study.

Background: Due to rapid urbanization, there is a need to better understand the relative roles of residential environment and physical activity in depression. We aimed to investigate whether neighbourhood characteristics are related to the presence of depressive symptoms and whether the association is modified by physical activity.

Methods: This cross-sectional study used the 46-year-old follow-up data (n = 5489) from the Northern Finland Birth Cohort 1966.

Comparison of machine learning methods in the early identification of vasculitides, myositides and glomerulonephritides.

Background: Rare disease diagnoses are often delayed by years, including multiple doctor visits, and potential imprecise or incorrect diagnoses before receiving the correct one. Machine learning could solve this problem by flagging potential patients that doctors should examine more closely.

Methods: Making the prediction situation as close as possible to real situation, we tested different masking sizes.

Circulating Tumor DNA in Head and Neck Squamous Cell Carcinoma: Association with Metabolic Tumor Burden Determined with FDG-PET/CT.

Background: The detection of circulating tumor DNA (ctDNA) with next-generation sequencing (NGS) in venous blood is a promising tool for the genomic profiling of head and neck squamous cell carcinoma (HNSCC). The association between ctDNA findings and metabolic tumor burden detected with FDG-PET/CT imaging is of particular interest for developing prognostic and predictive algorithms in HNSCC.

Methods: Twenty-six prospectively enrolled HNSCC patients were eligible for further analysis.

Low and high serum IgG associates with respiratory infections in a young and working age population.

Background: We investigated health consequences and genetic properties associated with serum IgG concentration in a young and working age general population.

Methods: Northern Finland Birth Cohort 1966 (NFBC1966, n = 12,231) health data have been collected from birth to 52 years of age. Relationships between life-long health events, medications, chronic conditions, lifestyle, and serum IgG concentration measured at age 46 years (n = 5430) were analysed.

Social Participation Considered as Meaningful in old age - the Perceptions of Senior Housing Residents in Finland.

As populations across the world age, there is a recognised need for promoting social participation in older adults. Previous studies related to social participation have addressed that interactions perceived as meaningful may improve quality of life in old age. However, what is less clear is the nature of such participation from the perspective of older adults, as the vast majority of studies have been quantitative.

The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.

Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career. Diseases of multi-organ autoimmunity and autoinflammation are especially challenging, as they are characterized by diverse clinical phenotypes and highly variable expressivity. The GAIN consortium (German multi-organ Auto Immunity Network) developed a dataset addressing these challenges.

Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.

Loss-of-function (LOF) mutations in NFKB1, coding for p105, may cause common variable immunodeficiency due to dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κΒ) pathway. Monoallelic LOF variants of NFKB1 can predispose to uncontrolled inflammation including sterile necrotizing fasciitis or pyoderma gangrenosum. In this study, we explored the impact of a heterozygous NFKB1 c.

Social relations and exclusion among people facing death.

In line with current policies and service developments related to palliative care, more people are dying at home. This situation has provoked discussions about the importance of non-medical issues related to death. The process of dying is often long, with many phases, and the social aspect is a major part of it.