Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity
Rattachement africain : hk, cn, in, Tunisie, sg, vn, id, ph, Algérie, my, tw, Afrique du Sud, th, lk, Maroc, bh. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott-Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity
- Date Crossref
- 08/07/2022
- Éditeur
- Frontiers Media SA
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Chinese University of Hong Kong pays non établi dans la noticeUniversité ou école supérieure
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University of Hong Kong Shenzhen Primary Immunodeficiency Diagnostic and Therapeutic Laboratory pays non établi dans la noticeUniversité ou école supérieure
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Children's Hospital of Chongqing Medical University Children's Hospital pays non établi dans la noticeÉtablissement de santé
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Chongqing Medical University pays non établi dans la noticeUniversité ou école supérieure
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Beijing Children’s Hospital pays non établi dans la noticeÉtablissement de santé
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University of Hong Kong - Shenzhen Hospital pays non établi dans la noticeÉtablissement de santé
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Post Graduate Institute of Medical Education and Research pays non établi dans la noticeUniversité ou école supérieure
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Institut Pasteur de Tunis Institut Pasteur de Tunis, Tunisie (code pays fourni par la source)Structure de recherche
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Tunis El Manar University Tunis El Manar University, Tunisie (code pays fourni par la source)Université ou école supérieure
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Capital Medical University Department of Immunology pays non établi dans la noticeUniversité ou école supérieure
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KK Women's and Children's Hospital Department of Paediatric Medicine pays non établi dans la noticeÉtablissement de santé
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Vietnam National Children's Hospital pays non établi dans la noticeÉtablissement de santé
Chinese University of Hong Kong, Shenzhen Primary Immunodeficiency Diagnostic and Therapeutic Laboratory — University of Hong Kong et Children's Hospital — Children's Hospital of Chongqing Medical University, avec 9 autres affiliations. Pays d’affiliation : Tunisie, Algérie, Afrique du Sud, Maroc.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.