The dilemma of X-linked agammaglobulinemia carriers.

Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.

Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

Reliability and validity of the Italian version of the Caregiver Priorities and Child Health Index of Life with Disabilities in children with cerebral palsy.

Background: The Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD™) questionnaire is a reliable indirect indicator of functional, health status and quality of life in children with severe Cerebral Palsy (CP), as well as the caregiving burden. The aim of the study is to validate the Italian translation of Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD™) questionnaire and assess its reliability and validity.

Methods: A cross-sectional study was conducted.

Changes in health-related quality of life in common variable immunodeficiency: an eight-year journey, including the COVID-19 pandemic.

Background: Personalized medicine requires the assessment of the impact of health care interventions on Health-Related Quality of Life.

Research Design And Methods: We run an observational study of HRQoL in 140 CVID patients with biannual assessments over 8  years using a disease-specific tool, the CVID_QoL, and the GHQ questionnaires. Factors influencing changes in HRQoL scores were identified using multiple linear regression models with a stepwise procedure.

Oropharyngeal microbial ecosystem perturbations influence the risk for acute respiratory infections in common variable immunodeficiency.

Background: The respiratory tract microbiome is essential for human health and well-being and is determined by genetic, lifestyle, and environmental factors. Patients with Common Variable Immunodeficiency (CVID) suffer from respiratory and intestinal tract infections, leading to chronic diseases and increased mortality rates. While CVID patients' gut microbiota have been analyzed, data on the respiratory microbiome ecosystem are limited.

Salivary α-Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome.

Background: 22q11.2 deletion syndrome (22q11.2DS) has been linked to an increased risk of early-onset Parkinson's disease.

Reply to Özdemir, Ö. Allergic Disease with Selective IgA Deficiency. Comment on "Cinicola et al. The Allergic Phenotype of Children and Adolescents with Selective IgA Deficiency: A Longitudinal Monocentric Study. 2022, , 5705".

We carefully read the correspondence [...

SARS-CoV-2 pre-exposure prophylaxis with tixagevimab/cilgavimab (AZD7442) provides protection in inborn errors of immunity with antibody defects: a real-world experience.

Background: Preventive strategies against severe COVID-19 in Inborn Errors of Immunity (IEI) include bivalent vaccines, treatment with SARS-CoV-2 monoclonal antibodies (mAbs), early antiviral therapies, and pre-exposure prophylaxis (PrEP).

Objective: To assess the effectiveness of the PrEP with tixagevimab/cilgavimab (AZD7442) in IEI with primary antibody defects during the COVID-19 Omicron wave.

Methods: A six-month prospective study evaluated the SARS-CoV-2 infection rate and the COVID-19 severity in the AZD7442 group, in the no-AZD7442 group, and in a group of patients with a recent SARS-CoV-2 infection (< three months).

Efficacy and safety of clozapine in treatment-resistant psychotic patients with DiGeorge syndrome (22q11.2 deletion syndrome): a case series.

Neuropsychiatric disorders are common manifestations in 22q11.2 deletion syndrome (22q11.2DS-DiGeorge Syndrome).

Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters.

Introduction: Assessing the response to vaccinations is one of the diagnostic criteria for Common Variable Immune Deficiencies (CVIDs). Vaccination against SARS-CoV-2 offered the unique opportunity to analyze the immune response to a novel antigen. We identify four CVIDs phenotype clusters by the integration of immune parameters after BTN162b2 boosters.

Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?

Deficiency of adenosine deaminase 2 (DADA2) is a rare systemic autoinflammatory disease, typically with autosomal recessive inheritance, usually caused by biallelic loss of function mutations in the gene. The phenotypic spectrum is broad, generally including fever, early-onset vasculitis, stroke, and hematologic dysfunction. Heterozygous carriers may show related signs and symptoms, usually milder and at an older age.

Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations.

Common variable immune deficiency (CVID) is a heterogeneous disorder characterized by recurrent infections, low levels of serum immunoglobulins, and impaired vaccine responses. Autoimmune manifestations are common, but B cell central and peripheral selection mechanisms in CVID are incompletely understood. Here, we find that receptor editing, a measure of central tolerance, is increased in transitional B cells from CVID patients and that these cells have a higher immunoglobulin κ:λ ratio in CVID patients with autoimmune manifestations than in those with infection only.

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.

DiGeorge syndrome (DGS) is a rare genetic disease caused by microdeletions of the 22q11.2 region (DGS1). A haploinsufficiency at 10p level has been proposed also as a DGS cause (DGS2).

Dynamics of volcanic vortex rings.

Vortex rings can easily be generated in the laboratory or with homemade devices, but they have also been observed on volcanoes, since the eighteenth century. However, the physical conditions under which volcanic vortex rings form are still unknown. In order to better understand this phenomenon and provide clues on the dynamics of the volcanic vortex rings, we performed a series of finite element simulations to investigate which model configuration leads to the rings formation that best matches the field observations.

COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS.

Background: The contemporaneous presence of immune defects and heart diseases in patients with 22q11.2 deletion syndrome (22q11.3DS) might represent risk factors for severe coronavirus 2019 disease (COVID-19).

The Allergic Phenotype of Children and Adolescents with Selective IgA Deficiency: A Longitudinal Monocentric Study.

Background: Selective IgA deficiency (SIgAD) is the most common inborn error of immunity. The exact prevalence and pathogenesis of allergy in SIgAD have not yet been defined. We aimed to describe the prevalence and the characteristics of allergy in pediatric SIgAD subjects, evaluate the association between allergy and other comorbidities, and define the immune phenotype of allergic and non-allergic patients.

COVID-19, Anosmia, and Allergies: Is There a Relationship? A Pediatric Perspective.

Background: Between June and July 2020, we evaluated children and adolescents concerning post-infection surveillance after a COVID-19 positivity during the lockdown. We aimed to assess whether the anamnestic presence of allergies could correlate with the presence of SARS-CoV-2 symptoms, and in particular with anosmia.

Material And Methods: For each patient, we collected anamnestic data, the presence of allergies documented by performing skin prick tests, and COVID-19 symptoms.

COVID-19 infection and vaccination in immunodeficiency.

During the last 2 years and a half, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread worldwide, causing about 6 million deaths. Clinical manifestations are highly variable, ranging from entirely asymptomatic infection to multiorgan failure and death. The outcome in immunocompromised patients is still a matter of debate, and so are the optimal strategies to prevent or treat the infection in these high-risk populations.