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: Clara Pardinhas, Gustavo Santo, Luís Escada, Jorge Rodrigues, Maria Rosário Almeida, Rui Alves, Manuel Salgado
Formato: article
Lenguaje:EN
Publicado: Karger Publishers 2021
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Acceso en línea:https://doaj.org/article/29719f8a64fd479cacccc55b73d4e92f
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