In the past 10 years, we have witnessed major advances in clinical immunology. Newborn
screening for severe combined immunodeficiency has become universal in the United�…

NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments.
Following the successful implementation of SCID-NBS programs, a call for the early�…

Background Primary antibody deficiencies (PAD) are characterized by a heterogeneous
clinical presentation and low prevalence, contributing to a median diagnostic delay of 3–10�…

This report illustrates a case that would have been missed in the most common screening
algorithms used worldwide in newborn screening (NBS) for severe combined�…

Background Many newborn screening programs worldwide have introduced screening for
diseases using DNA extracted from dried blood spots (DBS). In Germany, DNA-based�…

Purpose The diagnostic delay of primary antibody deficiencies (PADs) is associated with
increased morbidity, mortality, and healthcare costs. Therefore, a screening algorithm was�…

Chronic granulomatous disease (CGD) is a group of rare primary inborn errors of immunity
characterised by a defect in the phagocyte respiratory burst, which leads to severe and life�…

Background Newborn screening (NBS) for the early detection of inborn errors of immunity
(IEI) has been implemented in a few countries. The objective of this study was to verify the�…

T-cell receptor excision circles (TRECs) and kappa-deleting recombinant excision circles
(KRECs) are circular DNA molecules that are formed in the process of maturation of T and B�…

Abstract Introduction. Primary immunodeficiency states (PIDs) are a heterogeneous group of
innate immune disorders. A feature of the clinical manifestations of PID is that they are�…