A Unique Case of Deficiency of Adenosine Deaminase 2 Single in a Young Adult Patient

Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic disease caused by mutations in the adenosine deaminase 2 gene (ADA2). It is characterized by a wide range of manifestations, including systemic inflammation and vasculopathy, early onset stroke (ischemic or hemorrhagic), immunodeficienc...

Descripción completa

Detalles Bibliográficos
Autores principales: Alharthi, Atheer, Alhashmi Alamer, Ghaith R, Alqurashi, Saif S, Alsaeedi, Emad E, Alsulami, Hasheema
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808879/
https://www.ncbi.nlm.nih.gov/pubmed/36606112
http://dx.doi.org/10.7759/cureus.33273

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808879/
https://www.ncbi.nlm.nih.gov/pubmed/36606112
http://dx.doi.org/10.7759/cureus.33273

Ejemplares similares