Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
B-Lymphocytes
/ immunology
Early Diagnosis
Female
Genetic Markers
Genetic Predisposition to Disease
Germany
Humans
Immunologic Tests
Infant, Newborn
Male
Neonatal Screening
Phenotype
Poland
Predictive Value of Tests
Primary Immunodeficiency Diseases
/ diagnosis
Real-Time Polymerase Chain Reaction
Receptors, Antigen, T-Cell
/ genetics
Reproducibility of Results
Severe Combined Immunodeficiency
/ diagnosis
T-Lymphocytes
/ immunology
KREC
NGS
PID
RareScreen
SCID
TREC
newborn screening
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2020
2020
Historique:
received:
30
04
2020
accepted:
20
07
2020
entrez:
12
11
2020
pubmed:
13
11
2020
medline:
20
4
2021
Statut:
epublish
Résumé
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodeficiency (SCID), was initiated. SCID, but also some other severe PID, is a group of disorders characterized by the absence of T and/or B and NK cells. Affected infants are susceptible to life-threatening infections, but early detection gives a chance for effective treatment. The prevalence of SCID in the Polish and German populations is unknown but can be comparable to other countries (1:50,000-100,000). SCID NBS tests are based on real-time polymerase chain reaction (qPCR) and the measurement of a number of T cell receptor excision circles (TREC), kappa-deleting recombination excision circles (KREC), and beta-actin (ACTB) as a quality marker of DNA. This method can also be effective in NBS for other severe PID with T- and/or B-cell lymphopenia, including combined immunodeficiency (CID) or agammaglobulinemia. During the 14 months of collaboration, 44,287 newborns were screened according to the ImmunoIVD protocol. Within 65 positive samples, seven were classified to immediate recall and 58 requested a second sample. Examination of the 58 second samples resulted in recalling one newborn. Confirmatory tests included immunophenotyping of lymphocyte subsets with extension to TCR repertoire, lymphoproliferation tests, radiosensitivity tests, maternal engraftment assays, and molecular tests. Final diagnosis included: one case of T-B
Identifiants
pubmed: 33178177
doi: 10.3389/fimmu.2020.01948
pmc: PMC7596351
doi:
Substances chimiques
Genetic Markers
0
Receptors, Antigen, T-Cell
0
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1948Informations de copyright
Copyright © 2020 Giżewska, Durda, Winter, Ostrowska, Ołtarzewski, Klein, Blankenstein, Romanowska, Krzywińska-Zdeb, Patalan, Bartkowiak, Szczerba, Seiberling, Birkenfeld, Nauck, von Bernuth, Meisel, Bernatowska, Walczak and Pac.
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