Journal of Clinical Immunology

, Volume 35, Issue 6, pp 527–530 | Cite as

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

  • Joshua D. MilnerEmail author
CME Review


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.


Cold urticaria antibody deficiency granuloma PLAID syndrome 



This research was supported by the Intramural Research Program of the NIH, NIAID.

Conflict of interest

The author reports no financial conflict of interest


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Copyright information

© Springer Science+Business Media New York (outside the USA) 2015

Authors and Affiliations

  1. 1.Genetics and Pathogenesis of Allergy SectionLaboratory of Allergic Diseases, NIAID, NIHBethesdaUSA

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