Publications by authors named "O W Neth"
Article Synopsis
- APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
- Researchers discovered a deep intronic variant (c.1504-818 G>A) in these patients that causes a cryptic splice site leading to a dysfunctional protein through pseudoexon inclusion.
- They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
Prevention and treatment of infections are primary goals of treatment of children and adults with primary immune deficiencies due to decreased antibody production. Approaches to these goals include immunoglobulin replacement therapy, vaccination, and prophylactic treatment with antimicrobials. In this review, the infectious and non-infectious complications of antibody deficiencies will be discussed along with the limited number of studies that support the effective use of the available therapies and to drive the development of new therapies.
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- Autoimmune polyendocrine syndrome type 1 (APS-1) is a severe genetic disorder resulting from AIRE deficiency, leading to self-reactive T cells causing autoimmune damage in various organs.
- The study investigated the role of interferon-γ in APS-1 by analyzing patient samples and conducting experiments with mice, finding that high levels of interferon-γ correlate with disease activity.
- Treatment with the JAK inhibitor ruxolitinib significantly reduced interferon-γ levels and improved symptoms in APS-1 patients, suggesting that targeting this pathway may be a viable therapeutic approach.
Introduction: Activated phosphoinositide 3-kinase (PI3K)δ syndrome (APDS) is an ultra-rare inborn error of immunity (IEI) combining immunodeficiency and immune dysregulation. This study determined what represents value in APDS in Spain from a multidisciplinary perspective applying multicriteria decision analysis (MCDA) methodology.
Methods: A multidisciplinary committee of nine experts scored the evidence matrix.
Article Synopsis
- A phase 3 trial was conducted to evaluate the efficacy and safety of mavorixafor, an oral medication, in individuals with WHIM syndrome, a rare immunodeficiency disorder caused by genetic mutations.
- Participants were randomly assigned to receive either mavorixafor or a placebo for 52 weeks, with the study focusing on the time above certain white blood cell counts as the primary endpoint.
- Results showed mavorixafor significantly increased white blood cell counts, reduced infection rates and severity, and was well tolerated without serious adverse events occurring during the study.