Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT

doi:10.1007/s10875-023-01571-y

Case Reports

. 2023 Nov;43(8):1770-1773.

doi: 10.1007/s10875-023-01571-y. Epub 2023 Aug 25.

Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT

T J Weitering¹, M A A P Willemsen², A M R Taylor³, C M R Weemaes⁴, M van der Burg^#¹, Dagmar Berghuis⁵

Affiliations

¹ Willem-Alexander Children's Hospital, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, the Netherlands.
² Department of Neurology - Pediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
³ Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
⁴ Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.
⁵ Willem-Alexander Children's Hospital, Department of Pediatrics, Division of Pediatric Immunology and Stem Cell Transplantation, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands. d.berghuis@lumc.nl.

^# Contributed equally.

PMID: 37624468
DOI: 10.1007/s10875-023-01571-y

Case Reports

Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT

T J Weitering et al. J Clin Immunol. 2023 Nov.

. 2023 Nov;43(8):1770-1773.

doi: 10.1007/s10875-023-01571-y. Epub 2023 Aug 25.

Authors

T J Weitering¹, M A A P Willemsen², A M R Taylor³, C M R Weemaes⁴, M van der Burg^#¹, Dagmar Berghuis⁵

Affiliations

¹ Willem-Alexander Children's Hospital, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, the Netherlands.
² Department of Neurology - Pediatric Neurology, Radboud University Medical Center, Nijmegen, the Netherlands.
³ Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
⁴ Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.
⁵ Willem-Alexander Children's Hospital, Department of Pediatrics, Division of Pediatric Immunology and Stem Cell Transplantation, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands. d.berghuis@lumc.nl.

^# Contributed equally.

PMID: 37624468
DOI: 10.1007/s10875-023-01571-y

No abstract available

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References

1. van Os NJH, Jansen AFM, van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45–55. - DOI - PubMed
1. Mallott J, Kwan A, Church J, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540–9. - DOI - PubMed
1. Mandola AB, Reid B, Sirror R, et al. Ataxia telangiectasia diagnosed on newborn screening-case cohort of 5 years’ experience. Front Immunol. 2019;10:2940. - DOI - PubMed - PMC
1. Barbaro M, Ohlsson A, Borte S, et al. Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study. J Clin Immunol. 2017;37(1):51–60. - DOI - PubMed
1. Bakhtiar S, Woelke S, Huenecke S, et al. Pre-emptive allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia. Front Immunol. 2018;9:2495. - DOI - PubMed - PMC

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[1] van Os NJH, Jansen AFM, van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45–55. - DOI - PubMed

[2] van Os NJH, Jansen AFM, van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45–55. - DOI - PubMed

[3] Mallott J, Kwan A, Church J, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540–9. - DOI - PubMed

[4] Mallott J, Kwan A, Church J, et al. Newborn screening for SCID identifies patients with ataxia telangiectasia. J Clin Immunol. 2013;33(3):540–9. - DOI - PubMed

[5] Mandola AB, Reid B, Sirror R, et al. Ataxia telangiectasia diagnosed on newborn screening-case cohort of 5 years’ experience. Front Immunol. 2019;10:2940. - DOI - PubMed - PMC

[6] Mandola AB, Reid B, Sirror R, et al. Ataxia telangiectasia diagnosed on newborn screening-case cohort of 5 years’ experience. Front Immunol. 2019;10:2940. - DOI - PubMed - PMC

[7] Barbaro M, Ohlsson A, Borte S, et al. Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study. J Clin Immunol. 2017;37(1):51–60. - DOI - PubMed

[8] Barbaro M, Ohlsson A, Borte S, et al. Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study. J Clin Immunol. 2017;37(1):51–60. - DOI - PubMed

[9] Bakhtiar S, Woelke S, Huenecke S, et al. Pre-emptive allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia. Front Immunol. 2018;9:2495. - DOI - PubMed - PMC

[10] Bakhtiar S, Woelke S, Huenecke S, et al. Pre-emptive allogeneic hematopoietic stem cell transplantation in ataxia telangiectasia. Front Immunol. 2018;9:2495. - DOI - PubMed - PMC

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Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT

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Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT

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