Open AccessPrimary immune regulatory disorders: a growing universe of immune dysregulation
Author(s) -
Alice Chan,
Troy R. Torgerson
Publication year - 2020
Publication title -
current opinion in allergy and clinical immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.94
H-Index - 84
eISSN - 1528-4050
pISSN - 1473-6322
DOI - 10.1097/aci.0000000000000689
Subject(s) - immune dysregulation , immune system , primary immunodeficiency , medicine , autoimmunity , immunology , malignancy , immunodeficiency , immunity , bioinformatics , biology
Primary immune regulatory disorders (PIRD) are a growing subset of diseases referred to as inborn errors of immunity. Unlike classical primary immune deficiency disorders that typically present with severe, recurrent, or unusual infections, the clinical manifestations of PIRD are dominated by immune-mediated diseases (autoimmunity, autoinflammation/hyperinflammation, lymphoproliferation, malignancy, and severe atopy). This review introduces the concept of PIRD including clinical phenotypes, treatments, and new PIRD-associated gene defects.