Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

Definition:

Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease characterized by early-onset recurrent erythematous plaques and vesiculopustular skin lesions associated with arthralgia, corneal erosions, and interstitial pneumonia. APLAID is an allelic disorder of PLCG2-associated antibody deficiency and immune dysregulation (PLAID) with some overlapping features. A recent study demonstrated that a family with an autoinflammatory disease was found to have point mutations in the same CSH2 domain of PLCG2. The patients identified with APLAID developed recurrent sinopulmonary infections presumably due to a lack of class-switched memory B cells on lymphocyte immunophenotyping. The patients were partially responsive to anakinra and to high-dose corticosteroids.

References:

[1]. Adriana Almeida de Jesus, et al. Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013 Jun;147(3):155-74. [Content Brief]

[2]. Joshua D Milner, et al. PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes. J Clin Immunol. 2015 Aug;35(6):527-30. [Content Brief]

[3]. Joshua D Milner, et al. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol. 2013 Sep;13(9):635-48. [Content Brief]

[4]. Qing Zhou, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012 Oct 5;91(4):713-20. [Content Brief]

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