Ontology highlight
ABSTRACT:
SUBMITTER: Ricci S
PROVIDER: S-EPMC6718460 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Ricci Silvia S Lodi Lorenzo L Serranti Daniele D Moroni Marco M Belli Gilda G Mancano Giorgia G La Barbera Andrea A Forzano Giulia G Mangone Giusi G Indolfi Giuseppe G Azzari Chiara C
Frontiers in immunology 20190827
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 can exhibit severe immunodeficiency with hypogammaglobulinemia as the most frequent finding. Fever during infections is a known trigger of acute liver failure in this syndrome, so immune dysfunction, sh ...[more]