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 …

Patient registries are instrumental for clinical research in rare diseases. They help to achieve
a sufficient sample size for epidemiological and clinical research and to assess the …

Autoimmunity as a continuum in primary immunodeficiency : Current Opinion in Pediatrics
Autoimmunity as a continuum in primary immunodeficiency : Current Opinion in Pediatrics Log …

Background In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-
of-function (GOF) mutations were first described to cause a novel multisystem disease of …

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 …

Guidelines for screening for primary immunodeficiencies (PID) are well-defined and several
consensus diagnostic strategies have been proposed. These consensus proposals have …

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

Accurate and timely diagnosis of primary immunodeficiencies (PID) is an ongoing effort.
Individuals with PID can be severely impacted by their disease and many experience …

New primary immunodeficiencies 2021 context and future : Current Opinion in Pediatrics New
primary immunodeficiencies 2021 context and future : Current Opinion in Pediatrics Log in or …

Background Shearer et al in 2014 articulated well-defined criteria for the diagnosis and
classification of severe combined immunodeficiency (SCID) as part of the Primary Immune …