article_metadata: Silvia Ricci Lorenzo Lodi Daniele Serranti Marco Moroni Gilda Belli Giorgia Mancano Andrea La Barbera Giulia Forzano Giusi Mangone Giuseppe Indolfi Chiara Azzari
article_metadata: 10.3389/fimmu.2019.01955
article_metadata: Front Immunol
article_metadata: 2019 Aug 27;10:1955.
article_metadata: ilfs2 krec nbas soph immunodeficiency neuroblastoma amplified sequence deficiency newborn screening
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/31507590/
article_metadata: Genetic Association Studies Genetic Predisposition to Disease Neoplasm Proteins / deficiency Primary Immunodeficiency Diseases / diagnosis Primary Immunodeficiency Diseases / etiology
article_metadata: Genetic Association Studies Genetic Predisposition to Disease Neoplasm Proteins / deficiency Primary Immunodeficiency Diseases / diagnosis Primary Immunodeficiency Diseases / etiology Case Reports Research Support, Non-U.S. Gov't Review Biomarkers Exome Sequencing Genetic Testing Humans Immunophenotyping Infant, Newborn Lymphocytes / immunology Lymphocytes / metabolism Neonatal Screening Primary Immunodeficiency Diseases / metabolism Biomarkers NBAS protein, human Neoplasm Proteins
article_metadata: PMC6718460
article_metadata: 31507590
article_metadata: Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature
article_metadata: 2019