Clinicians often face challenges due to symptoms that may result from a primary inborn error
of immunity. Although the genetic root of these diseases is still largely unknown …

We report the updated classification of primary immunodeficiencies compiled by the Primary
Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological …

The advent of next-generation sequencing (NGS) and 'omic'technologies has revolutionized
the field of genetics, and its implementation in health care has the potential to realize …

There are more than 180 different genetic causes of primary immunodeficiencies identified
to date. Approaches for identifying causative mutations can be broadly classified into 3 …

Inborn errors of immunity (IEI) include a variety of heterogeneous genetic disorders in which
defects in the immune system lead to an increased susceptibility to infections and other …

The field of innate immunodeficiency has benefited greatly from the recent improvements in
genome sequencing technology and has advanced dramatically in the last 18 months. For …

Primary immunodeficiency disorders (PIDs) are inborn errors of the immune system. There
are over 150 types of PIDs and because of their rarity, multi-center collaboration for pooled …

Primary immunodeficiency diseases (PIDs) or inborn errors of immunity (IEI) are an
everexpanding universe of genetic defects of the immune system. In this editorial, we will be …

Human inborn errors of immunity (IEI) constitute a constellation of genetic disorders with
profound implications for immune system function, leading to recurrent infections, immune …