Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature

This is the first case of NBAS disease detected by NBS for primary immunodeficiency. NBS with KRECs is revealing unknown potentialities detecting conditions that benefit from early recognition like NBAS deficiency. Immune phenotyping should be mandatory in patients with NBAS deficiency since they ca...

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Detalles Bibliográficos
Autores principales: Ricci, Silvia, Lodi, Lorenzo, Serranti, Daniele, Moroni, Marco, Belli, Gilda, Mancano, Giorgia, La Barbera, Andrea, Forzano, Giulia, Mangone, Giusi, Indolfi, Giuseppe, Azzari, Chiara
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/PMC6718460/
https://www.ncbi.nlm.nih.gov/pubmed/31507590
http://dx.doi.org/10.3389/fimmu.2019.01955

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