Adult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report
This case highlights the importance of considering ADA2 deficiency in patients with unexplained stroke and recurrent vasculitis, particularly those with a history of parental consanguinity. Measurement of serum ADA activity may serve as a potential screening tool for ADA2 deficiency, especially in settings in which genetic testing is not readily available. J. Med. Invest. 72 : 430-433, August, 2025.
Authors
- Ryosuke Miyamoto (ORCID: https://orcid.org/0000-0003-3639-6484)
- Masaki Kamada
- Ryota Nakao
- Yuishin Izumi (ORCID: https://orcid.org/0000-0002-3048-9041)
- Yuki Yamamoto (ORCID: https://orcid.org/0000-0002-3385-338X)
- Hiroyuki Morino (ORCID: https://orcid.org/0000-0002-5190-3547)
- Kazuya Tachibana (ORCID: https://orcid.org/0000-0003-2520-8142)
Institutions
- Tokushima University (JP)
Publication Details
- Journal
- The Journal of Medical Investigation
- Published
- 2025-01-01
- DOI
- https://doi.org/10.2152/jmi.72.430
- Primary Topic
- Adenosine and Purinergic Signaling
- Type
- article
- Field-Weighted Citation Impact
- 0.00