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]

Details

Serval ID
serval:BIB_35F00EC79F4E
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
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]
Journal
Revue medicale suisse
Author(s)
Fouriki A., Schnider C., Theodoropoulou K., Pachlopnik J., Hofer M., Candotti F.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
13/01/2021
Peer-reviewed
Oui
Volume
17
Number
720-1
Pages
68-76
Language
french
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Abstract
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
Create date
26/01/2021 14:44
Last modification date
29/01/2021 6:26
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