Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Standard
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API). / Speckmann, Carsten; Nennstiel, Uta; Hönig, Manfred; Albert, Michael H; Ghosh, Sujal; Schuetz, Catharina; Brockow, Inken; Hörster, Friederike; Niehues, Tim; Ehl, Stephan; Wahn, Volker; Borte, Stephan; Lehmberg, Kai; Baumann, Ulrich; Beier, Rita; Krüger, Renate; Bakhtiar, Shahrzad; Kuehl, Joern-Sven; Klemann, Christian; Kontny, Udo; Holzer, Ursula; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Kreins, Alexandra Y; Davies, E Graham; Schneider, Dominik T; Bernuth, Horst V; Klingebiel, Thomas; Hoffmann, Georg F; Schulz, Ansgar; Hauck, Fabian.
In: J CLIN IMMUNOL, Vol. 43, No. 5, 07.2023, p. 965-978.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
AU - Speckmann, Carsten
AU - Nennstiel, Uta
AU - Hönig, Manfred
AU - Albert, Michael H
AU - Ghosh, Sujal
AU - Schuetz, Catharina
AU - Brockow, Inken
AU - Hörster, Friederike
AU - Niehues, Tim
AU - Ehl, Stephan
AU - Wahn, Volker
AU - Borte, Stephan
AU - Lehmberg, Kai
AU - Baumann, Ulrich
AU - Beier, Rita
AU - Krüger, Renate
AU - Bakhtiar, Shahrzad
AU - Kuehl, Joern-Sven
AU - Klemann, Christian
AU - Kontny, Udo
AU - Holzer, Ursula
AU - Meinhardt, Andrea
AU - Morbach, Henner
AU - Naumann-Bartsch, Nora
AU - Rothoeft, Tobias
AU - Kreins, Alexandra Y
AU - Davies, E Graham
AU - Schneider, Dominik T
AU - Bernuth, Horst V
AU - Klingebiel, Thomas
AU - Hoffmann, Georg F
AU - Schulz, Ansgar
AU - Hauck, Fabian
N1 - © 2023. The Author(s).
PY - 2023/7
Y1 - 2023/7
N2 - BACKGR OUND: T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.METHODS: Children with abnormal TREC-NBS were referred to a newly established network of Combined Immunodeficiency (CID) Clinics and Centers. The Working Group for Pediatric Immunology (API) and German Society for Newborn Screening (DGNS) performed 6-monthly surveys to assess the TREC-NBS process after 2.5 years.RESULTS: Among 1.9 million screened newborns, 88 patients with congenital T-cell lymphocytopenia were identified (25 SCID, 17 leaky SCID/Omenn syndrome (OS)/idiopathic T-cell lymphocytopenia, and 46 syndromic disorders). A genetic diagnosis was established in 88%. Twenty-six patients underwent hematopoietic stem cell transplantation (HSCT), 23/26 within 4 months of life. Of these, 25/26 (96%) were alive at last follow-up. Two patients presented with in utero onset OS and died after birth. Five patients with syndromic disorders underwent thymus transplantation. Eight syndromic patients deceased, all from non-immunological complications. TREC-NBS missed one patient, who later presented clinically, and one tracking failure occurred after an inconclusive screening result.CONCLUSION: The German TREC-NBS represents the largest European SCID screening at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54,000, very similar to previous observations from North American and European regions and countries where TREC-NBS was implemented. The newly founded API-CID network facilitates tracking and treatment of identified patients. Short-term HSCT outcome was excellent, but NBS and transplant registries will remain essential to evaluate the long-term outcome and to compare results across the rising numbers of TREC-NBS programs across Europe.
AB - BACKGR OUND: T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.METHODS: Children with abnormal TREC-NBS were referred to a newly established network of Combined Immunodeficiency (CID) Clinics and Centers. The Working Group for Pediatric Immunology (API) and German Society for Newborn Screening (DGNS) performed 6-monthly surveys to assess the TREC-NBS process after 2.5 years.RESULTS: Among 1.9 million screened newborns, 88 patients with congenital T-cell lymphocytopenia were identified (25 SCID, 17 leaky SCID/Omenn syndrome (OS)/idiopathic T-cell lymphocytopenia, and 46 syndromic disorders). A genetic diagnosis was established in 88%. Twenty-six patients underwent hematopoietic stem cell transplantation (HSCT), 23/26 within 4 months of life. Of these, 25/26 (96%) were alive at last follow-up. Two patients presented with in utero onset OS and died after birth. Five patients with syndromic disorders underwent thymus transplantation. Eight syndromic patients deceased, all from non-immunological complications. TREC-NBS missed one patient, who later presented clinically, and one tracking failure occurred after an inconclusive screening result.CONCLUSION: The German TREC-NBS represents the largest European SCID screening at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54,000, very similar to previous observations from North American and European regions and countries where TREC-NBS was implemented. The newly founded API-CID network facilitates tracking and treatment of identified patients. Short-term HSCT outcome was excellent, but NBS and transplant registries will remain essential to evaluate the long-term outcome and to compare results across the rising numbers of TREC-NBS programs across Europe.
KW - Child
KW - Infant, Newborn
KW - Humans
KW - Neonatal Screening/methods
KW - Severe Combined Immunodeficiency/diagnosis
KW - Prospective Studies
KW - Lymphopenia/diagnosis
KW - DNA
KW - Germany/epidemiology
KW - Receptors, Antigen, T-Cell/genetics
U2 - 10.1007/s10875-023-01450-6
DO - 10.1007/s10875-023-01450-6
M3 - SCORING: Journal article
C2 - 36843153
VL - 43
SP - 965
EP - 978
JO - J CLIN IMMUNOL
JF - J CLIN IMMUNOL
SN - 0271-9142
IS - 5
ER -