TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Giżewska, Maria
A1  - Durda, Katarzyna
A1  - Winter, Theresa
A1  - Ostrowska, Iwona
A1  - Ołtarzewski, Mariusz
A1  - Klein, Jeannette
A1  - Blankenstein, Oliver
A1  - Romanowska, Hanna
A1  - Krzywińska-Zdeb, Elżbieta
A1  - Patalan, Michał Filip
A1  - Bartkowiak, Elżbieta
A1  - Szczerba, Natalia
A1  - Seiberling, Stefan
A1  - Birkenfeld, Bożena
A1  - Nauck, Matthias
A1  - von Bernuth, Horst
A1  - Meisel, Christian
A1  - Bernatowska, Ewa Anna
A1  - Walczak, Mieczysław
A1  - Pac, Małgorzata
T1  - Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration
JF  - Frontiers in Immunology
N2  - 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-BlowNK+ SCID, one case of atypical Tlow BlowNK+ CID, one case of autosomal recessive agammaglobulinemia, and one case of Nijmegen breakage syndrome. Among four other positive results, three infants presented with T- and/or B-cell lymphopenia due to either the mother's immunosuppression, prematurity, or unknown reasons, which resolved or almost normalized in the first months of life. One newborn was classified as truly false positive. The overall positive predictive value (PPV) for the diagnosis of severe PID was 50.0%. This is the first population screening study that allowed identification of newborns with T and/or B immunodeficiency in Central and Eastern Europe.
KW  - -
KW  - newborn screening
KW  - SCID
KW  - TREC
KW  - KREC
KW  - RareScreen
KW  - PID
KW  - NGS
Y1  - 2020
UN  - https://nbn-resolving.org/urn:nbn:de:gbv:9-opus-40392
SN  - 1664-3224
SS  - 1664-3224
U6  - https://doi.org/10.3389/fimmu.2020.01948
DO  - https://doi.org/10.3389/fimmu.2020.01948
VL  - 11
PB  - Frontiers Media S.A.
ER  -