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Erschienen in: Journal of Clinical Immunology 5/2020

26.05.2020 | Original Article

Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie

verfasst von: Sonu Shai, Ruy Perez-Becker, Oliver Andres, Shahrzad Bakhtiar, Ulrich Bauman, Horst von Bernuth, Carl-Friedrich Classen, Gregor Dückers, Sabine M. El-Helou, Andrea Gangfuß, Sujal Ghosh, Bodo Grimbacher, Fabian Hauck, Manfred Hoenig, Ralf A. Husain, Gerhard Kindle, Florian Kipfmueller, Christian Klemann, Renate Krüger, Elke Lainka, Kai Lehmberg, Florens Lohrmann, Henner Morbach, Nora Naumann-Bartsch, Prasad Thomas Oommen, Ansgar Schulz, Kathrin Seidemann, Carsten Speckmann, Karl-Walter Sykora, Rüdiger von Kries, Tim Niehues

Erschienen in: Journal of Clinical Immunology | Ausgabe 5/2020

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Abstract

Purpose

Severe combined immunodeficiencies (SCID) are a heterogeneous group of fatal genetic disorders, in which the immune response is severely impaired. SCID can be cured if diagnosed early. We aim to determine the incidence of clinically defined SCID cases, acquire data of reported cases and evaluate their possible prediction by newborn screening, before introduction of a general screening program in Germany.

Methods

The German Surveillance Unit for rare Paediatric Diseases (ESPED) prospectively queried the number of incident SCID cases in all German paediatric hospitals in 2014 and 2015. Inclusion criteria were (1) opportunistic or severe infections or clinical features associated with SCID (failure to thrive, lacking thymus or lymphatic tissue, dysregulation of the immune system, graft versus host reaction caused by maternal T cells), (2) dysfunctional T cell immunity or proof of maternal T cells and (3) exclusion of a secondary immunodeficiency such as human immunodeficiency virus (HIV) infection. In a capture-recapture analysis, cases were matched with cases reported to the European Society for Immunodeficiencies (ESID).

Results

Fifty-eight patients were initially reported to ESPED, 24 reports could be confirmed as SCID, 21 patients were less than 1 year old at time of diagnosis. One SCID case was reported to ESID only. The estimated incidence of SCID in Germany is 1.6/100,000 (1:62,500) per year in children less than 1 year of age. Most patients reported were symptomatic and mortality in regard to reported outcome was high (29% (6/22)). The majority of incident SCID cases were considered to be probably detectable by newborn screening.

Conclusions

SCID is a rare disease with significant mortality. Newborn screening may give the opportunity to improve the prognosis in a significant number of children with SCID.
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Metadaten
Titel
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie
verfasst von
Sonu Shai
Ruy Perez-Becker
Oliver Andres
Shahrzad Bakhtiar
Ulrich Bauman
Horst von Bernuth
Carl-Friedrich Classen
Gregor Dückers
Sabine M. El-Helou
Andrea Gangfuß
Sujal Ghosh
Bodo Grimbacher
Fabian Hauck
Manfred Hoenig
Ralf A. Husain
Gerhard Kindle
Florian Kipfmueller
Christian Klemann
Renate Krüger
Elke Lainka
Kai Lehmberg
Florens Lohrmann
Henner Morbach
Nora Naumann-Bartsch
Prasad Thomas Oommen
Ansgar Schulz
Kathrin Seidemann
Carsten Speckmann
Karl-Walter Sykora
Rüdiger von Kries
Tim Niehues
Publikationsdatum
26.05.2020
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 5/2020
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00782-x

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