title: Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
abstract: Primary immunodeficiency diseases (PIDs) are a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system, such as neutrophils, macrophages, dendritic cells, complement proteins, natural killer cells, and T and B lymphocytes. The study of these diseases has provided essential insights into the functioning of the immune system. More than 120 distinct genes have been identified, whose abnormalities account for more than 150 different forms of PID. The complexity of the genetic,immunologic, and clinical features of PID has prompted the need for their classification, with the ultimate goal of facilitating diagnosis and treatment. To serve this goal, an international committee of experts has met every 2 years since 1970. In its last meeting in Jackson Hole, Wyo, after 3 days of intense scientific presentations and discussions, the committee has updated the classification of PID, as reported in this article.
authors.affiliation: Division of Immunology, Children's Hospital, Boston, MA 02115, USA. faif.geha@childrens.harvard.edu
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Helen
authors.initials: H
authors.lastname: Chapel
authors.forename: Mary Ellen
authors.initials: ME
authors.lastname: Conley
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarström
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Puck
authors.forename: Chaim
authors.initials: C
authors.lastname: Roifman
authors.forename: Reinhard
authors.initials: R
authors.lastname: Seger
authors.forename: Josiah
authors.initials: J
authors.lastname: Wedgwood
mesh_terms: D006801:Humans; D007107:Immune System / Q000502:physiology; D007153:Immunologic Deficiency Syndromes / Q000145:classification* / Q000235:genetics / Q000276:immunology