Publications by authors named "S Boscia"
Common variable immunodeficiency (CVID) represents an "umbrella" diagnosis due to its clinical and immunological heterogeneity. The primary objective of this study was to describe a cohort of CVID pediatric subjects from clinical, immunological, and genetic viewpoints. Secondary, we propose a model for prioritizing genetic investigations in these patients.
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- The study investigates the role of CD38/HLA-DRCD8 lymphocytes in distinguishing hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) from conditions like sepsis and systemic juvenile idiopathic arthritis.
- Researchers found that while CD38/HLA-DRCD8 frequencies were higher in HLH/MAS patients compared to other febrile conditions, the difference was not statistically significant.
- The findings suggest that CD38/HLA-DRCD8 levels are not exclusive to HLH, as they also increase in response to infections, highlighting their limited utility as an HLH-specific marker.
Background: Oral food challenge (OFC) is the criterion standard for diagnosis of acute food protein-induced enterocolitis syndrome (FPIES). No diagnostic/prognostic biomarkers are available, and OFC assessment criteria are not validated.
Objective: To assess clinical-hematological changes and predictors of severity of FPIES reactions at OFC.
Article Synopsis
- Inborn errors of immunity (IEIs) are inherited disorders that significantly increase the risk of severe infections and other serious health issues, with early detection being crucial, especially for severe combined immunodeficiency in newborns.
- A study in Tuscany, Italy, assessed the effectiveness of an expanded newborn screening (NBS) strategy that used advanced assays to identify various IEIs in infants born between 2018 and 2022.
- The findings showed a referral rate consistent with existing literature and a diagnosis rate of 1 in 9431 newborns, marking a successful implementation of a real-life NBS program aimed at improving early intervention for affected infants.