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Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences

OBJECTIVE: Describe the clinical characteristics and histopathology findings in a family with two siblings affected with deficiency of adenosine deaminase 2 (DADA2). Both patients presented in childhood with polyarthritis and developed significant neurological and gastrointestinal features of DADA2...

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Detalles Bibliográficos
Autores principales: Springer, Jason Michael, Gierer, Selina A., Jiang, Hong, Kleiner, David, Deuitch, Natalie, Ombrello, Amanda K., Grayson, Peter C., Aksentijevich, Ivona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010516/
https://www.ncbi.nlm.nih.gov/pubmed/29963054
http://dx.doi.org/10.3389/fimmu.2018.01361