Introduction During the last 4 decades, registration of patients with primary
immunodeficiencies (PID) has played an essential role in different aspects of these diseases …

Background The number of inherited diseases and the spectrum of clinical manifestations of
primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using …

Background Primary immunodeficiency disorders (PID) are a group of heterogeneous
disorders mainly characterized by severe and recurrent infections and increased …

Primary immunodeficiencies (PI) are genetic defects of the immune system that result in
chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many …

Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are
essential to maximize the scientific outcome and to improve diagnosis and therapy. In order …

Summary The Swiss National Registry for Primary Immunodeficiency Disorders (PID) was
established in 2008, constituting a nationwide network of paediatric and adult departments …

This is the second report of the United Kingdom Primary Immunodeficiency (UKPID) registry.
The registry will be a decade old in 2018 and, as of August 2017, had recruited 4758 …

Primary immunodeficiency disorders (PID) are a heterogeneous group of diseases,
characterized by an increased susceptibility to infections. A total of 930 patients (573 males …

Introduction Despite rapid developments in the science of primary immunodeficiency
diseases (PID), population characteristics and the burden of disease are poorly …

Background Molecular genetics techniques are an essential diagnostic tool for primary
immunodeficiency diseases (PIDs). The use of next-generation sequencing (NGS) provides …