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...
Enregistré dans:
| Auteurs principaux: | , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Karger Publishers
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/29719f8a64fd479cacccc55b73d4e92f |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Soyez le premier à ajouter un commentaire!