Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature-Reference-Cited by-同舟云学术

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

Published:2019-08-27 Issue: Volume:10 Page:
ISSN:1664-3224
Container-title:Frontiers in Immunology
language:
Short-container-title:Front. Immunol.

Author:

Ricci Silvia,Lodi Lorenzo,Serranti Daniele,Moroni Marco,Belli Gilda,Mancano Giorgia,La Barbera Andrea,Forzano Giulia,Mangone Giusi,Indolfi Giuseppe,Azzari Chiara

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference23 articles.

1. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts;Staufner;J Inherit Metab Dis.,2016

2. Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy;Haack;Am J Hum Genet.,2015

3. Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport;Aoki;Mol Biol Cell.,2009

4. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR;Borte;Blood.,2012

5. Newborn screening for PIDs using both TREC and KREC identifies late occurrence of B cells;Lodi;Pediatr Allergy Immunol.,2017

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1. Expanded Newborn Screening for Inborn Errors of Immunity: The Experience of Tuscany;The Journal of Allergy and Clinical Immunology: In Practice;2024-06

2. A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene;Human Genome Variation;2023-04-13

3. The Function of the NBAS Has Been Revealed: What about Its Multisystem Pathologies?;Russian Journal of Genetics;2023-04

4. The Function of the <i>NBAS</i> Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies?;Генетика;2023-04-01

5. Role of a novel neuroblastoma amplified sequence mutation, c.1342T>C (p.Cys448Arg), in an infant with fever-triggered recurrent acute liver failure;2022-10-17