Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
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.
Geha
Raif S
RS
Division of Immunology, Children's Hospital, Boston, MA 02115, USA. faif.geha@childrens.harvard.edu
Notarangelo
Luigi D
LD
Casanova
Jean-Laurent
JL
Chapel
Helen
H
Conley
Mary Ellen
ME
Fischer
Alain
A
Hammarström
Lennart
L
Nonoyama
Shigeaki
S
Ochs
Hans D
HD
Puck
Jennifer M
JM
Roifman
Chaim
C
Seger
Reinhard
R
Wedgwood
Josiah
J
D006801:Humans; D007107:Immune System / Q000502:physiology; D007153:Immunologic Deficiency Syndromes / Q000145:classification* / Q000235:genetics / Q000276:immunology