Publications by authors named "Irene D'Alba"
Article Synopsis
- Kabuki Syndrome (KS) is a genetic disorder that can affect multiple systems in the body, leading to immunological issues like higher infection risk and autoimmune responses.
- A study involving 39 KS patients revealed that many had congenital heart defects and a notable percentage suffered from autoimmune cytopenia, which was linked to thymectomy.
- The findings indicated that a significant number of patients had low immunoglobulin levels, increasing the need for immunoglobulin therapy, while certain immune cell abnormalities were also noted, highlighting the complexity of KS-related immunological challenges.
Main human inborn errors of immunity leading to fungal infections.
Clin Microbiol Infect
November 2022
Background: The host's molecular and genetic features are essential in providing susceptibility to a broad spectrum of fungal infections; most of these do not cause disease in healthy individuals because of mutual benefits with opportunistic fungi besides the host's capacity to control the infections. In contrast, patients with primary immunodeficiency can develop mild superficial to life-threatening invasive infections. In the last years, thanks to next-generation sequencing, several inborn-error variants have been discovered in genes encoding protein acting against fungal infections, contributing to better defining the role of innate and adaptive immunity cooperation during infection resolution.
View Article and Find Full Text PDFArticle Synopsis
- Brentuximab vedotin (BV) is evaluated for safety and efficacy in treating pediatric patients under 18 years old with refractory/relapsed classical Hodgkin's lymphoma (HL) in a study involving 68 patients.
- A median of nine doses were administered, resulting in an 86% best response rate and an overall response rate of 66%, with 3-year progression-free survival at 58% and overall survival at 75%.
- The study concludes that BV is a safe and effective treatment option for inducing complete remission in pediatric HL, whether used alone or with other therapies, although some patients experienced significant adverse effects.
Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Ataxia Telangiectasia Mutated (ATM) gene. The aim of this paper is to better define the immunological profile over time, the clinical immune-related manifestations at diagnosis and during follow-up, and to attempt a genotype-phenotype correlation of an Italian cohort of AT patients. Retrospective data of 69 AT patients diagnosed between December 1984 and November 2019 were collected from the database of the Italian Primary Immunodeficiency Network.
View Article and Find Full Text PDFInborn errors of immunity (IEI) are genetic disorders characterized by a wide spectrum of clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation. Among these, primary immune regulatory disorders (PIRDs) are mainly presenting with autoimmune manifestations, and autoimmune cytopenias (AICs) can be the first clinical sign. Significantly, AICs in patients with IEI often fail to respond to first-line therapy.
View Article and Find Full Text PDFObjective: The association between celiac disease (CD) and immune thrombocytopenia (ITP) is still uncertain. The aim of this study was to characterize the coexistence of these two diseases in Italian children.
Materials And Methods: This is a retrospective multicenter study investigating the occurrence of CD in 28 children with ITP diagnosed from January 1, 2000, to December 31, 2019.
Adolescents and young adults (AYAs) represent a distinct group of patients. The objectives of this study were: To compare adolescent prognosis to that of younger children; to compare the results achieved with the two consecutive protocols in both age groups; to analyze clinical characteristics of children and adolescents. Between 1996 and 2017, 1759 patients aged <18 years were evaluable for the study.
View Article and Find Full Text PDFSevere combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies.
View Article and Find Full Text PDFBackground: Rituximab (RTX; anti-CD20 mAb) is a treatment option in children with refractory immune thrombocytopenia, autoimmune hemolytic anemia (AHA), and Evans syndrome (ES). Prevalence and clinical course of RTX-induced hypogammaglobulinemia in these patients are poorly known.
Objective: To evaluate the prevalence and risk factors for persistent hypogammaglobulinemia (PH) after RTX use.
Background: Data on the prevalence of hyperventilation syndrome (HVS) in adolescents are scanty.
Objectives: To determine the prevalence of HVS in a population of adolescents with and without asthma, and to verify whether HVS was related to asthma activity.
Methods: A population of adolescents was asked to self-complete a questionnaire, including the Nijmegen questionnaire to assess HVS, and a standardized asthma questionnaire.