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. 2019 Dec 20;10:2940. doi: 10.3389/fimmu.2019.02940

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Copyright © 2019 Mandola, Reid, Sirror, Brager, Dent, Chakroborty, Bulman and Roifman.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Positive NBS results for SCID at the Hospital for Sick Children from 2013 to 2018. A total of 63 infants were NBS positive for SCID at our center. Of the 26 cases with confirmed immunodeficiency, 23% were diagnosed with adenosine deaminase deficiency (ADA), 15% with ataxia telangiectasia (AT), 15% with syndromes involving immunodeficiency (ID), 8% with IL2R gamma deficiency, and 4% each with deficiencies of CD3 delta, RMRP, coronin 1A, PIK3CD, Artemis, and SCID not yet defined (NYD). The remaining 37 cases were associated with maternal immunosuppression, cardiac post-thymectomy, prematurity, and lymphopenia NYD.