Publications by authors named "V Pinna"
Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs).
Methods: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing.
Article Synopsis
- * The study found that the transferrin receptor CD71 is increased in Tregs in liver cancer, and its deficiency caused severe health issues in mice due to impaired Treg expansion during early life.
- * CD71 deficiency led to iron overload in the liver, changes in gut microbiota, and suggests that Tregs may contribute to nutritional balance by competing for iron during early bacterial colonization.
Article Synopsis
- - The study investigates the relationship between X-linked chronic granulomatous disease (X-CGD), a genetic condition marked by recurrent infections, and regulatory T cells (Tregs) which help manage immune responses.
- - Researchers found that adult X-CGD patients had increased and activated Tregs in their blood, linked to the activation of conventional CD4+ T cells (Tconvs) that produce higher levels of TNF.
- - The activation of these T cells resulted in an increase of reactive oxygen species (ROS) not from the NOX2 pathway but from cellular metabolism, suggesting that Treg expansion is a response to overall immune activation in X-CGD patients.
Article Synopsis
- Dysregulation of the immune response, particularly through regulatory T cells (Tregs), may be key in the development of necrotizing enterocolitis (NEC) in high-risk neonates.
- A study compared the Treg frequencies in six NEC cases to 52 controls, finding significantly lower Treg levels in NEC cases at birth, which correlated with an increased risk of developing the condition.
- The findings suggest that monitoring Treg frequencies in preterm neonates could serve as an early risk indicator for NEC, helping healthcare providers better manage care for those at risk.
Introduction: is a sibling species within the (s.l.) complex requiring marine homeothermic (mainly cetaceans) and heterothermic (crustaceans, fish, and cephalopods) organisms to complete its life cycle.
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