Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the ... Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012).
Zhou et al. (2012) reported a father and daughter with a systemic autoinflammatory disorder characterized by early-onset recurrent blistering skin lesions, nonspecific interstitial pneumonitis with respiratory bronchiolitis (NSIP), arthralgia, eye inflammation, enterocolitis, cellulitis, and recurrent sinopulmonary infections. Both ... Zhou et al. (2012) reported a father and daughter with a systemic autoinflammatory disorder characterized by early-onset recurrent blistering skin lesions, nonspecific interstitial pneumonitis with respiratory bronchiolitis (NSIP), arthralgia, eye inflammation, enterocolitis, cellulitis, and recurrent sinopulmonary infections. Both individuals developed a full-body epidermolysis bullosa-like eruption in infancy, but this later evolved to recurrent erythematous plaques and vesiculopustular lesions that worsened with heat and sun exposure. Biopsy of open skin lesions revealed a dense infiltrate of neutrophils, eosinophils, histiocytes, and lymphocytes. In addition, the daughter developed corneal blisters at age 6 months and ulcerative colitis at age 2 years. Laboratory studies showed a decrease in circulating IgM and IgA antibodies, decreased numbers of class-switched memory B cells, and decreased numbers of NK T cells. Neither patient had autoantibodies. The symptoms were partially responsive to an IL1 (147760) inhibitor and high-dose corticosteroids.
In a father and daughter with APLAID, Zhou et al. (2012) identified a heterozygous missense mutation in the PLCG2 gene (600220.0004). The mutation was identified by exome sequencing and was shown to result in a gain of function. ... In a father and daughter with APLAID, Zhou et al. (2012) identified a heterozygous missense mutation in the PLCG2 gene (600220.0004). The mutation was identified by exome sequencing and was shown to result in a gain of function.