A Case of Multidisciplinary Treatment for Deficiency of Adenosine Deaminase 2

Jingyuan ZHANG; Xiaoqi WU; Jiayuan DAI; Xianghong JIN; Yuze CAO; Rui LUO; Hanlin ZHANG; Tiekuan DU; Xiaotian CHU; Peipei CHEN; Hao QIAN; Pengguang YAN; Jin XU; Min SHEN

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A Case of Multidisciplinary Treatment for Deficiency of Adenosine Deaminase 2

VernacularTitle:腺苷脱氨酶2缺乏症多学科协作诊疗一例
Author: Jingyuan ZHANG ¹ ; Xiaoqi WU ² ; Jiayuan DAI ¹ ; Xianghong JIN ¹ ; Yuze CAO ³ ; Rui LUO ⁴ ; Hanlin ZHANG ⁵ ; Tiekuan DU ⁶ ; Xiaotian CHU ⁷ ; Peipei CHEN ⁸ ; Hao QIAN ⁹ ; Pengguang YAN ¹⁰ ; Jin XU ¹ ; Min SHEN ¹
Author Information

1. Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
2. Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Department of Rheumatology & Immunology, Tianjin Children′s Hospital, Tianjin 300074, China;.
3. Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
4. Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
5. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
6. Palliative Medicine Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
7. Department of Rehabilitation, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
8. Department of Clinical Nutrition, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
9. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
10. Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
Publication Type:Journal Article
Keywords: deficiency of adenosine deaminase 2; necrosis; intracranial hemorrhage; severe malnutrition; multidisciplinary treatment
From: JOURNAL OF RARE DISEASES 2025;4(3):316-324
CountryChina
Language:Chinese
Abstract:
This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.