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

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

doi:10.1007/s10875-020-00782-x

Cited by 12 publications

(4 citation statements)

References 29 publications

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“…ORAI1 de ciency ( 28)). These children were mostly symptomatic at diagnosis and had a high mortality rate of 29% (29). Our current evaluation, after introduction of prospective TREC-NBS, allowed for a more detailed evaluation of the various causes of congenital T-cell lymphocytopenia and identi ed an incidence of ~1:54:000 for SCID, leaky SCID and OS patients and ~1:41:000 for the group of syndromic disorders with T-cell impairment.…”

Section: Discussionmentioning

confidence: 95%

Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)

Speckmann

Nennstiel²,

Hönig³

et al. 2022

Preprint

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Background 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 shortly 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 TREC-NBS was successfully incorporated into German NBS and represents the largest prospective European TREC-NBS cohort at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54.000. The overall incidence of severe congenital T-cell lymphocytopenia is 1:21.000. 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.

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Section: Discussionmentioning

confidence: 95%

Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)

Speckmann

Nennstiel²,

Hönig³

et al. 2022

Preprint

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“…Yet, the case definition in this former study was based primarily on clinical findings and also included some patients with syndromes (i.e., 22q11.2) and diseases, which may clinically present as SCID, but are usually not detected by TREC-NBS (e.g., ORAI1 deficiency [ 28 ]). The children of the ESPED study were mostly symptomatic at diagnosis and had a high mortality rate of 29% [ 29 ]. Our current evaluation, after introduction of prospective TREC-NBS, allowed for a more detailed evaluation of the various causes of congenital T-cell lymphocytopenia and estimated an incidence of ~ 1:54,000 for SCID, leaky SCID, and OS patients and ~ 1:41,000 for the group of syndromic disorders with T-cell impairment.…”

Section: Discussionmentioning

confidence: 99%

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

Speckmann

Nennstiel²,

Hönig³

et al. 2023

J Clin Immunol

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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.

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“…Whether and where to do so, however, will need careful consideration based on monitoring of treatment capacity at existing centres, given that tissue preparation is a very specialised process and patient care is highly complex, both requiring significant levels of expertise. While there are several renowned Paediatric Immunology centres across Europe, there may be only one or two athymic children identified every year even in larger European countries, 58,59 demonstrating the rareness of the condition. A thymus transplantation programme requires specialist medical and laboratory staff, and provision of laboratories and equipment needs to be such that donor tissue is consistently processed according to a strict set of quality standards.…”

Section: Treatment Accessibilitymentioning

confidence: 99%

Congenital Athymia: Unmet Needs and Practical Guidance

Howley¹,

Davies²,

Kreins³

2023

TCRM

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Inborn errors of thymic stromal cell development and function which are associated with congenital athymia result in lifethreatening immunodeficiency with susceptibility to infections and autoimmunity. Athymic patients can be treated by thymus transplantation using cultured donor thymus tissue. Outcomes in patients treated at Duke University Medical Center and Great Ormond Street Hospital (GOSH) over the past three decades have shown that sufficient T-cell immunity can be recovered to clear and prevent infections, but post-treatment autoimmune manifestations are relatively common. Whilst thymus transplantation offers the chance of long-term survival, significant challenges remain to optimise the outcomes for the patients. In this review, we will discuss unmet needs and offer practical guidance based on the experience of the European Thymus Transplantation programme at GOSH. Newborn screening (NBS) for severe combined immunodeficiency (SCID) and routine use of next-generation sequencing (NGS) platforms have improved early recognition of congenital athymia and increasing numbers of patients are being referred for thymus transplantation. Nevertheless, there remain delays in diagnosis, in particular when the cause is genetically undefined, and treatment accessibility needs to be improved. The majority of athymic patients have syndromic features with acute and chronic complex health issues, requiring life-long multidisciplinary and multicentre collaboration to optimise their medical and social care. Comprehensive follow up after thymus transplantation including monitoring of immunological results, management of co-morbidities and patient and family quality-of-life experience, is vital to understanding long-term outcomes for this rare cohort of patients. Alongside translational research into improving strategies for thymus replacement therapy, patient-focused clinical research will facilitate the design of strategies to improve the overall care for athymic patients.

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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

Cited by 12 publications

References 29 publications

Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)

Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

Congenital Athymia: Unmet Needs and Practical Guidance

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