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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Detalles Bibliográficos
Autores principales: Pardinhas, Clara, Santo, Gustavo, Escada, Luís, Rodrigues, Jorge, Almeida, Maria Rosário, Alves, Rui, Salgado, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Single Case
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739640/
https://www.ncbi.nlm.nih.gov/pubmed/35083289
http://dx.doi.org/10.1159/000517141

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