J Rheum Dis  
Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea
Sun Cho, M.D.1, Seongyeol Park, M.D., Ph.D.2, Jeong Seok Lee, M.D., Ph.D.2, Young Seok Ju, M.D., Ph.D.2,3, Yun Jung Choi, M.D.1,4, Soyoung Lee, M.D., Ph.D.1,2*
1Department of Pediatrics, Seoul National University Hospital, Seoul, 2GENOME INSIGHT Inc., 3Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, 4Hospital Medicine Center, Seoul National University Hospital, Seoul, Korea
Correspondence to: Soyoung Lee, http://orcid.org/0000-0001-9627-6607
Department of Pediatrics, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea. E-mail: leadethme@naver.com
Yun Jung Choi, http://orcid.org/0000-0002-0078-8374
Department of Pediatrics, Hospital Medicine Center, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea. E-mail: flubber224@gmail.com
*Current affiliation: GENOME INSIGHT Inc.
Received: September 27, 2021; Revised: October 30, 2021; Accepted: November 4, 2021; Published online: July 5, 2022.
© Korean College of Rheumatology.

This is a open Access article, which permits unrestricted non-commerical use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by pathogenic variants of the ADA2 gene and has similar clinical features to polyarteritis nodosa (PAN). We, herein, report a case of DADA2 in Korea that was diagnosed in a patient with childhood-onset PAN. The patient had a truncal ataxia and facial palsy caused by thalamic infarction at 34 months of age. Livedo reticularis with Raynaud phenomenon and abdominal pain with fever were followed. Radiologic examination showed multiple infarctions in brain and kidney. She was diagnosed with PAN using skin biopsy and angiography. She had severe hemorrhagic strokes despite medical treatments. Her disease activity was controlled after adding a tumor necrosis factor-α inhibitor. Molecular analysis revealed compound heterozygous pathogenic variants of ADA2 gene. This is the first case of DADA2 in Korea. Genetic analysis for ADA2 gene should be considered in patients with childhood-onset PAN.
Keywords: Polyarteritis nodosa, ADA2 deficiency, ADA2 gene, Deficiency of adenosine deaminase 2


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