Background Next-generation sequencing has become a first-line tool for the diagnosis of
primary immunodeficiency. However, patient access remains limited because of restricted …

Background Primary immunodeficiency diseases (PIDDs) are inherited disorders of the
immune system. The most severe form, severe combined immunodeficiency (SCID) …

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

Introduction Genetic testing of patients with clinically diagnosed or suspected primary
immunodeficiencies (PIDs) constitutes standard of care. Choice of testing modality and …

Abstract Introduction: Primary immunodeficiencies (PIDs) are a heterogeneous group of
disorders characterized by increased susceptibility to infections, immune dysregulation …

Primary immunodeficiencies comprise a group of inborn errors of immunity that display
significant clinical and genetic heterogeneity. Next-generation sequencing techniques and …

Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically
heterogeneous group of over 350 disorders affecting development or function of the immune …

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

Primary immunodeficiency disorders (PIDs) are inborn errors of immunity (IEI) that cause
immune system impairment. To date, more than 400 single-gene IEI have been well defined …

Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome
yet important for the clinical management of the disease. Exome sequencing may provide a …