Successful newborn screening for SCID in the Navajo Nation

被引：41

作者：

Kwan, Antonia ^{[1
,2
]}

Hu, Diana ^{[3
]}

Song, Miran ^{[3
]}

Gomes, Heidi ^{[4
]}

Brown, Denise R. ^{[3
]}

Bourque, Trudy ^{[4
]}

Gonzatez-Espinosa, Diana ^{[1
,2
]}

Lin, Zhili ^{[5
]}

Cowan, Morton J. ^{[1
,2
]}

Puck, Jennifer M. ^{[1
,2
]}

机构：

[1] Benioff Childrens Hosp, Dept Pediat, Allergy Immunol & Blood & Marrow Transplant Div, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, San Francisco, CA 94143 USA

[3] Tuba City Reg Hlth Care Ctr, Dept Pediat, Tuba City, AZ 86045 USA

[4] Chinle Comprehens Hlth Care Facil, Dept Pediat, Chinle, AZ 86503 USA

[5] PerkinElmer Genet Inc, Res & Dev, Bridgeville, PA 15017 USA

来源：

CLINICAL IMMUNOLOGY | 2015年 / 158卷 / 01期

关键词：

Artemis; Navajo; Newborn screening; Primary immunodeficiency; SCID; TREC; SEVERE COMBINED IMMUNODEFICIENCY; INFORMED-CONSENT; POPULATION; TRANSPLANTATION; MUTATION;

D O I：

10.1016/j.clim.2015.02.015

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Newborn screening (NBS) for severe combined immunodeficiency (SCID) identifies affected infants before the onset of life-threatening infections, permitting optimal treatment. Navajo Native Americans have a founder mutation in the DNA repair enzyme Artemis, resulting in frequent Artemis SCID (SOD-A). A pilot study at 2 Navajo hospitals assessed the feasibility of SCID NBS in this population. Dried blood spots from 1800 infants were assayed by PCR for T-cell receptor excision circles (TRECs), a biomarker for naive T cells. Starting in February 2012, TREC testing transitioned to standard care throughout the Navajo Area Indian Health Service, and a total of 7900 infants were screened through July 2014. One infant had low TRECs and was diagnosed with non-SCID T lymphopenia, while 4 had undetectable TRECs due to SCID-A, all of whom were referred for hematopoietic cell transplantation. This report establishes the incidence of SCID-A and demonstrates effectiveness of TREC NBS in the Navajo. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：29 / 34

页数：6

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