LB1538 A novel hypermorphic missense mutation in PLCG2 gene, resulting in the autosomal dominant immunodeficiency “APLAID syndrome” with recurrent polymorphic rash

"Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" (APLAID syndrome) is due to autosomal dominant hypermorphic missense mutations in the PLCG2 gene encoding phospholipase Cγ2 (PLCγ2), an immune and inflammatory regulatory enzyme. Zhou et. al. reported a novel de novo variant in c.2120C>A nucleotide (p.Ser707Tyr) in the SH2 domain of exon 20 with constitutive activation of PlCy2 in the only two previously reported cases. They described a constellation of features including recurrent intermittent rashes and infections, arthralgias, ocular inflammation, and mild immunodeficiency.