Primary immune regulatory disorders: a growing universe of immune dysregulation.

ABSTRACT:

Purpose of review

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.

Recent findings

The number of genetic defects associated with PIRD is rapidly growing. The identified genes often encode proteins that play critical roles in regulating the immune response to various triggers. Understandi

SUBMITTER: Chan AY 

PROVIDER: S-EPMC7769114 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature