Publications by authors named "Patrick Bez"
Purpose Of Review: The purpose of the review is to describe the most recent advancement in understanding of the pivotal role of autoimmune regulator ( AIRE ) gene expression in central and peripheral tolerance, and the implications of its impairment in the genetic and pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) manifestations with insight into possible treatment options.
Recent Findings: AIRE gene expression has an important role of central and peripheral tolerance. Different AIRE gene mutations cause APECED, whereas polymorphisms and some variants may be implicated in development of other more frequently autoimmune diseases.
Article Synopsis
- - Liver disease is a significant risk factor for higher mortality in patients with common variable immunodeficiency (CVID), mainly due to conditions like presinusoidal portal hypertension (PHTN) from nodular regenerative hyperplasia (NRH).
- - Recent studies have explored the causes and treatment options, revealing that T-cell damage leads to NRH and PHTN in CVID patients, with elevated liver stiffness and enlarged spleens as potential red flags for early detection.
- - There is a call for more research to improve the understanding of liver diseases in CVID and to establish effective treatment protocols, as current strategies are often inconsistent and based on trial and error.
Article Synopsis
- * Sarcoidosis typically affects immunocompetent individuals, while GLILD occurs in those with common variable immunodeficiency (CVID), and distinguishing factors include unique symptoms and specific imaging and histological traits.
- * Both conditions can lead to significant lung function decline and systemic complications, highlighting the need for further research into their underlying mechanisms and treatment options that may improve patient outcomes when studied together.
Article Synopsis
- The study examines long COVID (LC) in patients with common variable immunodeficiency (CVID), finding a 65.7% prevalence of LC symptoms lasting over 12 weeks after SARS-CoV-2 infection.
- Key symptoms reported include fatigue, joint and muscle pain, and difficulty breathing, with 60% of patients experiencing these symptoms for at least six months post-infection.
- Factors such as complicated CVID phenotype, obesity, and female sex were found to significantly increase the risk of developing long COVID in this patient group, highlighting the need for tailored management strategies.
Article Synopsis
- The study addresses the complexities of treating immunocompromised patients infected with SARS-CoV-2, focusing on the effectiveness and potential side effects of antiviral and monoclonal therapies.
- It presents a case series of five adult patients with inborn errors of immunity (IEI) who received various combination therapies at three Italian referral centers, including monoclonal antibodies, antivirals, and convalescent plasma.
- The findings suggest that combination therapy may be beneficial for complicated IEI patients who have weak antibody responses and struggle with vaccine efficacy.
Background: CVID patients present an increased risk of prolonged SARS-CoV-2 infection and re-infection and a higher COVID-19-related morbidity and mortality compared to the general population. Since 2021, different therapeutic and prophylactic strategies have been employed in vulnerable groups (vaccination, SARS-CoV-2 monoclonal antibodies and antivirals). The impact of treatments over the last 2 years has not been explored in international studies considering the emergence of viral variants and different management between countries.
View Article and Find Full Text PDFBackground: Since the beginning of the COVID-19 pandemic, patients with Inborn Errors of Immunity have been infected by SARS-CoV-2 virus showing a spectrum of disease ranging from asymptomatic to severe COVID-19. A fair number of patients did not respond adequately to SARS-CoV-2 vaccinations, thus early therapeutic or prophylactic measures were needed to prevent severe or fatal course or COVID-19 and to reduce the burden of hospitalizations.
Methods: Longitudinal, multicentric study on patients with Inborn Errors of Immunity immunized with mRNA vaccines treated with monoclonal antibodies and/or antiviral agents at the first infection and at reinfection by SARS-CoV-2.