Evaluation of the T-cell receptor excision circle assay performances for severe combined immunodeficiency neonatal screening on Guthrie cards in a French single centre study

被引：30

作者：

Audrain, Marie ^{[1
]}

Thomas, Caroline ^{[2
]}

Mirallie, Sophie ^{[3
]}

Bourgeois, Nathalie ^{[1
]}

Sebille, Veronique ^{[4
]}

Rabetrano, Hasina ^{[5
]}

Durand-Zaleski, Isabelle ^{[5
]}

Boisson, Rachel ^{[1
]}

Persyn, Mathieu ^{[1
]}

Pierres, Cecile ^{[6
]}

Mahlaoui, Nizar ^{[7
,8
,9
]}

Fischer, Alain ^{[7
,8
,9
]}

机构：

[1] CHU Nantes, Immunol Lab, F-44093 Nantes, France

[2] CHU Nantes, Serv Oncol Pediat, F-44093 Nantes, France

[3] CHU Nantes, Lab Depistage Neonatal, F-44093 Nantes, France

[4] CHU Nantes, F-44093 Nantes, France

[5] AP HP, Hotel Dieu, URC Eco, F-75004 Paris, France

[6] CHU Nantes, F-44093 Nantes, France

[7] AP HP, Hop Necker, CEREDIH Ctr Reference Deficits Immunitaires Hered, F-75743 Paris, France

[8] AP HP, Hop Necker, Unite Immunol Hematol & Rhumatol Pediat, F-75743 Paris, France

[9] Univ Paris 05, Inst Imagine, Paris, France

来源：

CLINICAL IMMUNOLOGY | 2014年 / 150卷 / 02期

关键词：

Severe combined immunodeficiency; SCID; Neonatal screening; Quantification of TRECs;

D O I：

10.1016/j.clim.2013.11.012

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：137 / 139

页数：3

共 9 条

[1] Development of a routine newborn screening protocol for severe combined immunodeficiency [J].

Baker, Mei W. ;

Grossman, William J. ;

Laessig, Ronald H. ;

Hoffman, Gary L. ;

Brokopp, Charles D. ;

Kurtycz, Daniel F. ;

Cogley, Michael F. ;

Litsheim, Thomas J. ;

Katcher, Murray L. ;

Routes, John M. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (03) :522-527

[2] Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening [J].

Brown, Lucinda ;

Xu-Bayford, Jinhua ;

Allwood, Zoe ;

Slatter, Mary ;

Cant, Andrew ;

Davies, E. Graham ;

Veys, Paul ;

Gennery, Andrew R. ;

Gaspar, H. Bobby .

BLOOD, 2011, 117 (11) :3243-3246

[3] Development of population-based newborn screening for severe combined immunodeficiency [J].

Chan, K ;

Puck, JM .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2005, 115 (02) :391-398

[4] Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency [J].

Comeau, Anne Marie ;

Hale, Jaime E. ;

Pai, Sung-Yun ;

Bonilla, Francisco A. ;

Notarangelo, Luigi D. ;

Pasternack, Mark S. ;

Meissner, H. Cody ;

Cooper, Ellen Rae ;

DeMaria, Alfred ;

Sahai, Inderneel ;

Eaton, Roger B. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 :S273-S281

[5] Changes in thymic function with age and during the treatment of HIV infection [J].

Douek, DC ;

McFarland, RD ;

Keiser, PH ;

Gage, EA ;

Massey, JM ;

Haynes, BF ;

Polis, MA ;

Haase, AT ;

Feinberg, MB ;

Sullivan, JL ;

Jamieson, BD ;

Zack, JA ;

Picker, LJ ;

Koup, RA .

NATURE, 1998, 396 (6712) :690-695

[6] High-Throughput Multiplexed T-Cell-Receptor Excision Circle Quantitative PCR Assay with Internal Controls for Detection of Severe Combined Immunodeficiency in Population-Based Newborn Screening [J].

Gerstel-Thompson, Jacalyn L. ;

Wilkey, Jonathan F. ;

Baptiste, Jennifer C. ;

Navas, Jennifer S. ;

Pai, Sung-Yun ;

Pass, Kenneth A. ;

Eaton, Roger B. ;

Comeau, Anne Marie .

CLINICAL CHEMISTRY, 2010, 56 (09) :1466-1474

[7] Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years [J].

Kwan, Antonia ;

Church, Joseph A. ;

Cowan, Morton J. ;

Agarwal, Rajni ;

Kapoor, Neena ;

Kohn, Donald B. ;

Lewis, David B. ;

McGhee, Sean A. ;

Moore, Theodore B. ;

Stiehm, E. Richard ;

Porteus, Matthew ;

Aznar, Constantino P. ;

Currier, Robert ;

Lorey, Fred ;

Puck, Jennifer M. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 132 (01) :140-U245

[8] Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation [J].

Puck, Jennifer M. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2007, 120 (04) :760-768

[9] The Wisconsin approach to newborn screening for severe combined immunodeficiency [J].

Verbsky, James ;

Thakar, Monica ;

Routes, John .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2012, 129 (03) :622-627

← 1 →