Silvia Ricci Lorenzo Lodi Daniele Serranti Marco Moroni Gilda Belli Giorgia Mancano Andrea La Barbera Giulia Forzano Giusi Mangone Giuseppe Indolfi Chiara Azzari
10.3389/fimmu.2019.01955
Front Immunol
2019 Aug 27;10:1955.
ilfs2 krec nbas soph immunodeficiency neuroblastoma amplified sequence deficiency newborn screening
CC BY
https://pubmed.ncbi.nlm.nih.gov/31507590/
Genetic Association Studies Genetic Predisposition to Disease Neoplasm Proteins / deficiency Primary Immunodeficiency Diseases / diagnosis Primary Immunodeficiency Diseases / etiology
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
PMC6718460
31507590
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature
2019