Publications by authors named "V Lougaris"
Inborn errors of immunity (IEI) are rare diseases that affect the immune system. According to the latest International Union of Immunological Societies (IUIS) classification, 485 different IEI have been identified. Even if increased susceptibility to infections is the best-known symptom, IEI are no longer defined by the higher likelihood of infections alone.
View Article and Find Full Text PDFBackground: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).
Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.
Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.
Background: Inborn errors of immunity (IEIs) are more than 500 different rare congenital disorders of the immune system characterized by susceptibility to infections and immune dysregulation. The significant overlap of the clinical features among the different forms may lead to diagnostic delay. High throughput sequencing techniques may allow a timely genetic definition.
View Article and Find Full Text PDFBackground: Respiratory disease is a frequent cause of morbidity and mortality in common variable immunodeficiencies (CVIDs); however, lung function trajectories are poorly understood.
Objective: We sought to determine lung physiology measurements in CVIDs, their temporal trajectory, and their association with clinical and immunologic parameters.
Methods: This retrospective study from 5 Italian centers included patients with CVIDs who had longitudinal pulmonary function tests (PFTs) and chest computed tomography scan available.
Article Synopsis
- Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is a rare genetic disease that disrupts the immune system, causing various symptoms that usually begin in childhood.
- In a phase III clinical trial, a drug called leniolisib was shown to effectively reduce lymph node swelling and increase naïve B cell levels in both adolescents and adults with APDS compared to those given a placebo.
- The study found that leniolisib was well-tolerated across age groups and suggests it could be a promising treatment option for managing APDS by addressing the underlying cause rather than just the symptoms.