Figure S1.
The diagram labels different parts of the body and indicates the frequency of specific clinical findings. The brain is highlighted with ischemic stroke (43 percent) and hemorrhagic stroke (10 percent). The skin shows erythema nodosum (17 percent) and livedo racemosa (50 percent). The lungs are marked with pneumonia/bronchitis (27 percent). The spleen is indicated with splenomegaly (50 percent). The gastrointestinal tract includes enteropathy/IBD (38 percent), infections (21 percent), oral ulcers (23 percent), and mesenteric ischemia. The joints are highlighted with arthritis/arthralgia (50 percent). The bone marrow shows cytopenia (83 percent) and bone marrow failure. The fingers are marked with Raynaud's phenomenon (13 percent). The vasculature includes hypertension (15 percent) and PAN (19 percent). The muscles are indicated with myalgia/myositis (31 percent). The lymph nodes show lymphadenopathy (21 percent). The upper airway is marked with recurring infections (35 percent).
Common clinical findings in patients with deficiency of ADA2. Observed frequencies in this cohort shown in parentheses.