STAT1 and chronic granulomatous disease: For example, the PM2 score was highly elevated in deficiency of adenosine deaminase 2 (DADA2) patients and several PIDs such as STAT1 gain-of-function (STAT1 GOF) and X-linked chronic granulomatous disease (X-CGD), relative to healthy subjects (Fig. 2a,b; Extended Data Table 8).