A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges
Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and though...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2021-11-01
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| Series: | Case Reports in Nephrology and Dialysis |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/517141 |