Rare inborn errors of immunity: new insights in molecular basis, diagnosis and treatment

Primary Immunodeficiencies (PIDs) represent a group of rare inborn errors of immunity due to defects in the development and/or function in various components of the innate and adaptive immune system. PIDs are traditionally considered rare conditions, however, recent reports suggest that they are more common than previously believed, with an estimated prevalence of 2.3 per 100,000 persons. These disorders are characterized by a wide range of clinical symptoms, including an increased rate and severity of infections, sometimes with accompanying autoimmune or auto-inflammatory diseases, allergy and malignancy. Early diagnosis of PID is useful in order to prevent significant disease-associated morbidity and mortality. In this PhD thesis, the potential effects of betamethasone treatment on neurological symptoms and quality of life of patients affected with Ataxia-Telangiectasia are evaluated. Furthermore, new insights in the clinical, functional and molecular characterization of patients affected with several forms of PIDS, paying particular attention to recent discovered gene, are provided. A better definition of the malformative spectrum, including lung and ear-nose-throat disorders in children with 22q11.2 deletion syndrome and their role as risk factor for the pathogenesis of respiratory infections, are discussed.