Preprint Article Version 1 This version is not peer-reviewed

Population-Based Screening for Severe Combined Immunodeficiency in Manitoba, Canada

Version 1 : Received: 2 May 2018 / Approved: 3 May 2018 / Online: 3 May 2018 (13:24:15 CEST)

A peer-reviewed article of this Preprint also exists.

Thompson, J.R.; Greenberg, C.R.; Dick, A.; Jilkina, O.; Kwan, L.; Rubin, T.S.; Zelinski, T.; Schroeder, M.L.; Van Caeseele, P. Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int. J. Neonatal Screen. 2018, 4, 19. Thompson, J.R.; Greenberg, C.R.; Dick, A.; Jilkina, O.; Kwan, L.; Rubin, T.S.; Zelinski, T.; Schroeder, M.L.; Van Caeseele, P. Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. Int. J. Neonatal Screen. 2018, 4, 19.

Journal reference: Int. J. Neonatal Screen. 2018, 4, 19
DOI: 10.3390/ijns4020019

Abstract

The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Northern Cree ancestry (IKBKB founder mutation). We have previously demonstrated that in these two populations the most widely utilized T-cell receptor excision circle (TREC) assay is an ineffective newborn screening test to detect SCID as these patients have normal numbers of mature T-cells. We have developed a semi-automated, closed tube, high resolution DNA melting procedure to simultaneously genotype both of these mutations from the same newborn blood spot DNA extract used for the TREC assay. Parallel analysis of all newborn screening specimens utilizing both TREC analysis and the high resolution DNA procedure should provide as complete ascertainment as possible of SCID in the Manitoba population.

Subject Areas

newborn screening; SCID; TREC

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