2. Academic Validation
  3. PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes

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

  • J Clin Immunol. 2015 Aug;35(6):527-30. doi: 10.1007/s10875-015-0177-x.
Joshua D Milner 1
Affiliations

Affiliation

  • 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. jdmilner@niaid.nih.gov.
PMID: 26206677 DOI: 10.1007/s10875-015-0177-x
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.

Keywords

Cold urticaria; PLAID syndrome; antibody deficiency; granuloma.

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