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.