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01-08-2015 | CME Review

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes

Author: Joshua D. Milner

Published in: Journal of Clinical Immunology | Issue 6/2015

Abstract

PLCG2 associated antibody deficiency and immune dysregulation (PLAID) is a complex dominantly inherited disease characterized almost universally by cold urticaria, and variably by recurrent bacterial infection, autoimmunty and skin granuloma formation. Several striking phenotypes can emerge from this disease, and the pathophysiology leads to a complex mix of loss and gain of function in cellular signaling. This review discusses the key phenotypic characteristics and pathophysiologic observations seen in PLAID, and contrasts PLAID to several related disorders in order to best contextualize this fascinating disease.

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Title: PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes
Author: Joshua D. Milner
Publication date: 01-08-2015
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 6/2015
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-015-0177-x

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