ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygous ADA2 mutation: a case report

BACKGROUND: The deficiency of adenosine deaminase 2 (DADA2) is caused by an autosomal recessive bi-allelic loss-of-function mutation in the adenosine deaminase 2 (ADA2) gene. DADA2 is a monogenic inherited autoinflammatory disorder characterized by early-onset vasculopathy for which the symptoms ran...

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Detalles Bibliográficos
Autores principales: Yin, Jing, Fan, Xiaorui, Ma, Jijun, Liu, Xiaoxue, Li, Chongwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926128/
https://www.ncbi.nlm.nih.gov/pubmed/36798931
http://dx.doi.org/10.21037/tp-22-261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926128/
https://www.ncbi.nlm.nih.gov/pubmed/36798931
http://dx.doi.org/10.21037/tp-22-261

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