Aziz Bousfiha

TL;DR: The updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.

TL;DR: This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies.

TL;DR: The most up-to-date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.

TL;DR: The classification described here will serve as a critical reference for immunologists and researchers worldwide and the categorization and listing of 354 inborn errors of immunity are detailed.

TL;DR: The 2019 phenotypic classification of IEI is reported, including the 65 new conditions, based on clinical and laboratory phenotypes for each of the ten broad categories of IEi.