Chronic mucocutaneous candidiasis due to TRAF3IP2 mutation in three Saudi patients – A case series and literature review

ACT1 deficiency is extremely rare inborn error of immunity with only eleven cases reported in the literature. We reported a case series of three Saudi patients with chronic mucocutaneous candidiasis (CMC) due to mutations in TRAF3IP2, a gene encoding the adaptor ACT1. Two of them were siblings who presented with recurrent oral thrush, hair folliculitis, and short stature, and were found to have a frameshift TRAF3IP2 mutation. The other patient had recurrent oral thrush complicated with candida esophagitis. He also demonstrated characteristics indicative of attention-deficit/hyperactivity disorder (ADHD). He harbored a nonsense TRAF3IP2 mutation. Short stature and ADHD are clinical manifestations not previously linked to ACT1 deficiency, suggesting the potential for more broader systemic involvement. In this manuscript, we delineate additional cases that expand the clinical and genetic landscape of TRAF3IP2-associated disorders.