Publications by authors named "L Yiyi"
Second-line treatments of autoimmune cytopenias (AC) are not well-defined in children. Mycophenolate mofetil (MMF) is an immunosuppressant agent that has been demonstrated to be safe and effective in this setting. A retrospective observational study was conducted in 18 children with prolonged AC who received MMF, in order to describe clinical and biological markers of response.
View Article and Find Full Text PDFBackground: Information regarding inborn error of immunity (IEI) as a risk factor for severe COVID-19 is scarce. We aimed to determine if paediatric patients with moderate/severe IEI got COVID-19 at the same level as the general population, and to describe COVID-19 expression.
Material And Methods: We included patients with moderate/severe IEI aged 0-21 years old: cross-sectional study (June2020) to determine the prevalence of COVID-19; prospective study (January2020-January2021) including IEI patients with COVID-19.
Article Synopsis
- Chronic mucocutaneous candidiasis (CMC) involves persistent non-invasive fungal infections affecting the skin, nails, and mucous membranes, often accompanied by autoimmune issues due to immune system defects.
- The main immune problem is related to cytokine IL-17 signaling disruptions, frequently caused by gene mutations that enhance its activity.
- Effective treatment typically starts with azole antifungals, but drug resistance is a challenge; identifying genetic defects can help expand treatment options, including using Type I and II inhibitors to manage CMC linked to specific mutations.
Background: Phosphoglucomutase-3 (PGM3) deficiency is a congenital disorder of glycosylation (CDG) with hyperimmunoglobulin IgE, atopy, and a variable immunological phenotype; most reported patients display dysmorphic features. The aim of the study was to characterize the genotype and phenotype of individuals with newly identified compound heterozygous variants in the phosphate-binding domain of PGM3 in order to better understand phenotypic differences between these patients and published cases.
Methods: We analyzed PGM3 protein expression, PGM3 enzymatic activity, the presence of other gene variants within the N-glycosylation pathway, and the clinical and immunological manifestations of two affected siblings.