Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing-Reference-Cited by-同舟云学术

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing

Published:2021-02 Issue:2 Volume:147 Page:734-737
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Fusaro Mathieu,Rosain Jérémie,Grandin Virginie,Lambert Nathalie,Hanein Sylvain,Fourrage Cécile,Renaud Nicholas,Gil Marine,Chevalier Samuel,Chahla Wadih Abou,Bader-Meunier Brigitte,Barlogis Vincent,Blanche Stéphane,Boutboul David,Castelle Martin,Comont Thibault,Diana Jean-Sébastien,Fieschi Claire,Galicier Lionel,Hermine Olivier,Lefèvre-Utile Alain,Malphettes Marion,Merlin Etienne,Oksenhendler Eric,Pasquet Marlène,Suarez Felipe,André Isabelle,Béziat Vivien,De Saint Basile Geneviève,De Villartay Jean-Pierre,Kracker Sven,Lagresle-Peyrou Chantal,Latour Sylvain,Rieux-Laucat Frédéric,Mahlaoui Nizar,Bole Christine,Nitschke Patrick,Hulier-Ammar Elisabeth,Fischer Alain,Moshous Despina,Neven Bénédicte,Alcais Alexandre,Vogt Guillaume,Bustamante Jacinta,Picard Capucine

Funder

Institut Necker-Enfants Malades

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference9 articles.

1. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee;Tangye;J Clin Immunol,2020

2. Targeted strategies directed at the molecular defect: toward precision medicine for select primary immunodeficiency disorders;Notarangelo;J Allergy Clin Immunol,2017

3. Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies;Picard;Eur J Immunol,2014

4. Diagnostic yield of next generation sequencing in genetically undiagnosed patients with primary immunodeficiencies: a systematic review;Yska;J Clin Immunol,2019

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T- lymphocytopaenia;2024-07-12

2. Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome;Cell Death & Disease;2024-05-04

3. A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings;Clinical Immunology;2024-04

4. The Application of Targeted Sequencing Technology in Clinical Practice;Advances in Clinical Medicine;2024

5. Spectrum ofLYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature;Journal of Medical Genetics;2023-10-03