The induction and action of type I interferon (IFN) is of fundamental importance in human
immune defenses toward microbial pathogens, particularly viruses. Basic discoveries within …

Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency,
characterized by remarkable genetic, immunological, and clinical heterogeneity. The …

Background Common variable immunodeficiency disorders (CVID) are a group of rare
innate disorders characterized by specific antibody deficiency and increased rates of …

Abstract Purpose Kabuki syndrome (KS)(OMIM 147920 and 300867) is a rare genetic
disorder characterized by specific facial features, intellectual disability, and various …

Background Immunocompromised individuals can become chronically infected with
norovirus, but effective antiviral therapies are not yet available. Methods Treatments with …

Первичные иммунодефициты (ПИД) представляют собой разнородную группу
генетически обусловленных заболеваний, вызванных дефектами более чем 300 …

Background Knowledge of the genetic variation underlying Primary Immune Deficiency
(PID) is increasing. Reanalysis of genome-wide sequencing data from undiagnosed patients …

Background Due to the absence of curative treatments for inborn errors of immunity (IEI),
children born with IEI require long-term follow-up for disease manifestations and related …

Background Non-infectious complications have become a major cause of morbidity and
mortality in patients with Common Variable Immunodeficiency (CVID). The monitoring of …

Hematopoietic gene therapy has markedly progressed during the last 15 years both in terms
of safety and efficacy. While a number of serious adverse events (SAE) were initially …