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

Abstract:

: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, should never go unnoticed in NBAS deficiency in order to start adequate therapy and prophylaxis.

journal_name

Front Immunol

journal_title

Frontiers in immunology

authors

Ricci S,Lodi L,Serranti D,Moroni M,Belli G,Mancano G,La Barbera A,Forzano G,Mangone G,Indolfi G,Azzari C

doi

10.3389/fimmu.2019.01955

subject

Has Abstract

pub_date

2019-08-27 00:00:00

pages

1955

issn

1664-3224

journal_volume

10

pub_type

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