case_images: PMC10303984_01
case_images: (A) Oral ulcer. (B) Paronychia. (C) Leg lymphedema. (D) Vasculitic lesions. (E) Timeline for the clinical manifestations and treatments of the patient.
case_images: fped-11-1200401-g001.jpg
case_images: PMC10303984_01_fped-11-1200401-g001.jpg
case_images: F1
case_images: Since the age of 12, the patient also presented recurrent periodontal infections, as well as frequent episodes of skin furuncles and paronychia, frequently needing antibiotics (Figures 1A,B). Four weeks after the second infliximab infusion, the patient developed bilateral tibiotarsal inflammation, which temporarily improved with ibuprofen, but progressed to bilateral lymphedema of leg and foot (Figure 1C). One week later, she developed retrosternal pain, as well as severe acute pain in the hands and feet preceding the appearance of lesions of vasculitis in both thumbs and toes (Figure 1D). As a rare secondary effect of infliximab could not be ruled out, infliximab was stopped after these episodes of limb ischemia and cardiac lesion; subcutaneous etanercept was started 50 mg once a week, and the patient has been stable since then (Figure 1E).
case_images: Family tree.
case_images: fped-11-1200401-g002.jpg
case_images: PMC10303984_01_fped-11-1200401-g002.jpg
case_images: F2
case_images: We then performed measurement of plasma ADA2 enzymatic activity, which was found to be nearly absent (Table 1); the patient's parents were also studied and were found to be healthy carriers (Figure 2), leading to the diagnosis of DADA2 caused by compound heterozygosity in the ADA2 gene.