A case haploinsuffificiency of A20 was initial diagnosed as systemic lupus erythematosus

Abstract

Abstract Background Haploinsuffificiency of A20 (HA20) is one of inborn errors of immunity causing severe autoinflammatory and autoimmune disorders. Case presentation: Here we reported a case of a 1-year-and-9-month-old boy presented for treatment with pain, swelling and limited mobility in his right ankle. Multiple positive autoantibodies were examined with a history of recurrent oral ulcers during follow-up, and finally diagnosed as HA20 by molecular genetic testing. Clinical symptoms were relieved after treatment. Conclusion The clinical heterogeneity of HA20 is significant, the child presented with arthritis, recurrent oral ulcer, positive autoantibodies, mild to moderate anemia, inflammatory markers, and multiple ulcers under colonoscopy, which were similar to systemic lupus erythematosus. Additionally, a new mutation determining a framesetter change of TNFAIP3 gene was detected.