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

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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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Acknowledgments

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

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The author reports no financial conflict of interest

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Authors and Affiliations

  1. Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, NIAID, NIH, 10 Center Drive, NIH Building 10-CRC 5-3950, Bethesda, MD, 20892, USA

    Joshua D. Milner

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  1. Joshua D. Milner
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Correspondence to Joshua D. Milner.

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Up to 1.0 AMA PRA Category 1 Credit™ of Continuing Medical Education Credit can now be obtained by reading this review article and completing all activity components by visiting the Clinical Immunology Society web site at http://www.clinimmsoc.org/education/continuing-medical-education/e-learning-tools/journal-cme

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Milner, J.D. PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes. J Clin Immunol 35, 527–530 (2015). https://doi.org/10.1007/s10875-015-0177-x

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  • DOI: https://doi.org/10.1007/s10875-015-0177-x

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