“…4,6,8,9 GOF variants lead to hyper-phosphorylation of STAT1 in response to stimulation, increasing STAT1-dependent transcription. 7,10,11 The p.Ala267Val variant identified in our patient is absent from large population databases, but has been identified in more than 10 individuals in multiple families with chronic mucocutaneous candidiasis, and shown to have a GOF effect. 6,12 We thus considered the p.Ala267Val variant as causal for our patient's recurrent aphthous ulcers, thrush, and aplastic anemia.…”