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...
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| Autores principales: | , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Karger Publishers
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/29719f8a64fd479cacccc55b73d4e92f |
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