Pédiatrie - Dépistage des nouveau-nés en Suisse pour les déficiences sévères à lymphocytes T et B [Newborn screening for severe T and B lymphocyte deficiencies in Switzerland]
Détails
Télécharger: RMS_720-1_68.pdf (293.14 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY-NC-ND 4.0
Etat: Public
Version: Final published version
Licence: CC BY-NC-ND 4.0
ID Serval
serval:BIB_35F00EC79F4E
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Pédiatrie - Dépistage des nouveau-nés en Suisse pour les déficiences sévères à lymphocytes T et B [Newborn screening for severe T and B lymphocyte deficiencies in Switzerland]
Périodique
Revue medicale suisse
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Statut éditorial
Publié
Date de publication
13/01/2021
Peer-reviewed
Oui
Volume
17
Numéro
720-1
Pages
68-76
Langue
français
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
Severe Combined Immunodeficiency (SCID) is one of the most severe forms of Primary Immunodeficiencies (PID) and leads to a potentially fatal course of disease without early and definitive treatment. Adequate management, from the first days of life, can improve the survival and outcome of patients with SCID. This can be achieved through newborn screening (NBS) based on the measurement of T-cell receptor excision circles (TREC). Already present in many countries, this NBS test was introduced in Switzerland in January 2019 on a pilot phase. In addition to the assessment of TRECs, the measurement of kappa recombinant excision circles (KREC) has also been introduced at the same time and allows the identification of severe forms of PID characterized by profound B cell lymphopenia.
Pubmed
Création de la notice
26/01/2021 14:44
Dernière modification de la notice
06/05/2023 5:49