TY - JOUR T1 - Unveiling Deficiency of Adenosine Deaminase 2: An Adult Patient With Recurrent Strokes, Vasculitic Ulcers, and Bowel Perforation JF - The Journal of Rheumatology JO - J Rheumatol SP - 1291 LP - 1293 DO - 10.3899/jrheum.220218 VL - 49 IS - 11 AU - Francesca Trentin AU - Linda Carli AU - Chiara Tani AU - Marta Mosca Y1 - 2022/11/01 UR - http://www.jrheum.org/content/49/11/1291.abstract N2 - To the Editor:Here we describe the case of a 38-year-old man with a history of ischemic transient attacks and strokes from the age of 9 years, livedo reticularis, asymmetrical sensorimotor neuropathy, optic neuritis, testicular ischemia, digital ulcers, ulcerative colitis, and diastolic hypertension.Disease course was characterized by severe disease bouts treated with high-dose intravenous (IV) glucocorticoid (GC) pulse therapy, short periods of paucisymptomatic disease, and inability to taper GCs despite the use of traditional oral and IV immunosuppressants, interferon, and plasmapheresis. In 2012, after the failure of conventional therapy, the patient was treated with infliximab and had a significant reduction in the number of flares and hospitalizations. In 2016, the patient was switched to etanercept (ETN) achieving clinical remission, normalization of the inflammatory variables, and steroid tapering. Unfortunately, in 2018, anti–tumor necrosis factor (TNF) treatment was discontinued due to severe infectious complications. After a few months, the patient was admitted to hospital for a new vasculitic pontine infarction. Laboratory findings revealed mild thrombocytopenia, lymphopenia, and fluctuating inflammatory marker … ER -