Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is …

Genetic testing plays a critical role in diagnosis for many primary immunodeficiency
diseases. The goals of this report are to outline some of the challenges that clinical …

Background As the application of next generation sequencing (NGS) is moving to earlier
stages in the diagnostic pipeline for primary immunodeficiencies (PIDs), re-evaluation of its …

Genetic testing has become an integral component of the diagnostic evaluation of patients
with suspected primary immunodeficiency diseases. Results of genetic testing can have a …

Background: Primary Immunodeficiencies (PIDs) are a heterogeneous group of genetic
immune disorders. While some PIDs can manifest with more than one phenotype, signs, and …

Background Recently, a growing number of novel genetic defects underlying primary
immunodeficiencies (PIDs) have been identified, increasing the number of PID up to more …

Primary immunodeficiencies (PIDs) are rare monogenic inborn errors of immunity that result
in impairment of functions of the human immune system. PIDs have a broad phenotype with …

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

Background and Objective: Primary immunodeficiency diseases (PIDs) are a group of more
than 350 disorders affecting distinct components of the innate and adaptive immune …

Purpose Inborn Errors of Immunity (IEI) are heterogeneous disorders of immunity with
variable clinical presentation and outcome. This is the first comprehensive report from the …