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ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation

Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (CECR1) gene, currently named ADA2. The disease has a wide clinical spectrum encompassing early-onset vasculopathy (targeting skin, gut and central nervous syste...

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Detalles Bibliográficos
Autores principales:	Barzaghi, Federica, Minniti, Federica, Mauro, Margherita, Bortoli, Massimiliano De, Balter, Rita, Bonetti, Elisa, Zaccaron, Ada, Vitale, Virginia, Omrani, Maryam, Zoccolillo, Matteo, Brigida, Immacolata, Cicalese, Maria Pia, Degano, Massimo, Hershfield, Michael S., Aiuti, Alessandro, Bondarenko, Anastasiia V., Chinello, Matteo, Cesaro, Simone
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339927/ https://www.ncbi.nlm.nih.gov/pubmed/30692987 http://dx.doi.org/10.3389/fimmu.2018.02767

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