Fig. 2.

Structure of PLCγ2 and multiple sequence alignment. a Schematic representation of the protein domains of PLCγ2. Annotated are previous cases of APLAID, PLAID, and somatic cancer-associated mutations linked to the Met1141 site. The yellow star refers to the mutation identified in the current report. b The region surrounding the p.Met1141Lys substitution site was aligned to the corresponding regions in a variety of organisms. Indicated in red is the substitution site. Asterisks indicate perfect conservation. PLCγ2, phospholipase C gamma 2; PH, pleckstrin homology domain; EF, EF hand; SH2, Src Homology 2 domain; SH3, Src Homology 3 domain; C2, C2 domain; APLAID, autoinflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency, and immune dysregulation (APLAID) syndrome; PLAID, PLCG2-associated antibody deficiency, and immune dysregulation syndrome