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Thomas C, et al. A severe neonatal lymphopenia associated with administration of azathioprine to the mother in a context of Crohn’s disease. J Crohn’s Colitis. 2017;12(2):258–61.
Kuo CY, et al. Profound T-cell lymphopenia associated with prenatal exposure to purine antagonists detected by TREC newborn screening. J Allergy Clin Immunol Pract. 2017;5(1):198–200.
Barbaro M, 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.
Amatuni GS, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017. Pediatrics. 2019;143(2):e20182300.
Thomas C, et al. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol. 2019;202:33–9.
Giżewska M, et al. Newborn screening for SCID and other severe primary immunodeficiency in the Polish-German transborder area: experience from the first 14 months of collaboration. Front Immunol. 2020;11:1948–1948.
Gearry RB, Barclay ML. Azathioprine and 6-mercaptopurine pharmacogenetics and metabolite monitoring in inflammatory bowel disease. J Gastroenterol Hepatol. 2005;20(8):1149–57.
Akbari M, et al. systematic review and meta-analysis on the effects of thiopurines on birth outcomes from female and male patients with inflammatory bowel disease. Inflamm Bowel Dis. 2012;19(1):15–22.
Colombel JF, et al. Genotypic analysis of thiopurine S-methyltransferase in patients with Crohn’s disease and severe myelosuppression during azathioprine therapy. Gastroenterology. 2000;118(6):1025–30.
Relling MV, et al. Clinical pharmacogenetics implementation consortium guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clin Pharmacol Ther. 2019;105(5):1095–105.
Baron U, et al. Epigenetic immune cell counting in human blood samples for immunodiagnostics. Sci Transl Med. 2018; 10(452).
van der Woude CJ, et al. The second European evidenced-based consensus on reproduction and pregnancy in inflammatory bowel disease. J Crohn’s Colitis. 2015;9(2):107–24.
Blom M, et al. parents’ perspectives and societal acceptance of implementation of newborn screening for SCID in the Netherlands. J Clin Immunol. 2021;41(1):99–108.
The authors would like to thank all those involved in the SONNET-study for their contribution to the study. A special thanks to all parents of the cases and dr. S.M.H. Timmermans for their participation and support.
The Netherlands Organisation for Health Research and Development ZonMw financed the SONNET-study (project 543002002).
This study was performed in line with the principles of the Declaration of Helsinki. Approval for the SONNET-study was granted by the Medical Ethics Committee of the Erasmus MC, University Medical Center, Rotterdam (MEC-2017–1146).
Consent to Participate
In order to participate in newborn screening for SCID (SONNET-study), parents have to express verbal consent when the heel prick is performed (opt-out consent).
Consent for Publication
Parents of cases have provided consent for the publication of the data in this case report.
Conflict of Interest
The authors declare no competing interests.
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Blom, M., Pico-Knijnenburg, I., van Montfrans, J.M. et al. Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child. J Clin Immunol (2021). https://doi.org/10.1007/s10875-021-01138-9