A Practical Approach to Newborn Screening for Severe Combined immunodeficiency Using the T Cell Receptor excision Circle Assay

被引:30
作者
Thakar, Monica S. [1 ]
Hintermeyer, Mary K. [2 ]
Gries, Miranda G. [1 ]
Routes, John M. [3 ]
Verbsky, James W. [4 ]
机构
[1] Med Coll Wisconsin, Dept Pediat, Div Hematol Oncol, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA
[2] Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA
[3] Med Coll Wisconsin, Dept Pediat, Div Allergy & Clin Immunol, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA
[4] Med Coll Wisconsin, Dept Pediat, Div Rheumatol, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA
来源
FRONTIERS IN IMMUNOLOGY | 2017年 / 8卷
关键词
severe combined immunodeficiency; T cell receptor excision circles; newborn screening; bone marrow transplantation; antibiotic prophylaxis; 1ST; 2; YEARS; LYMPHOPENIA; TRANSPLANTATION; IDENTIFICATION; EXPERIENCE; DEFICIENCY; DISEASES; TREC;
D O I
10.3389/fimmu.2017.01470
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Severe combined immunodeficiency (SCID) is a life-threatening condition of newborns and infants caused by defects in genes involved in T cell development. Newborn screening (NBS) for SCID using the T cell receptor excision circle (TREC) assay began in Wisconsin in 2008 and has been adopted or is being implemented by all states in 2017. It has been established that NBS using the TREC assay is extremely sensitive to detect SCID in the newborn period. Some controversies remain regarding how screening positives are handled by individual states, including when to perform confirmatory flow cytometry, what is the necessary diagnostic workup of patients, what infection prophylaxis measures should be taken, and when hematopoietic stem cell transplantation should occur. In addition, the TREC can also assay detect infants with T cell lymphopenia who are not severe enough to be considered SCID; management of these infants is also evolving.
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共 25 条
[1]   Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation [J].
Abraham, Roshini S. ;
Recher, Mike ;
Giliani, Silvia ;
Walter, Jolan E. ;
Lee, Yu Nee ;
Frugoni, Francesco ;
Maddox, Daniel E. ;
Kirmani, Salman ;
Notarangelo, Luigi D. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (05) :1421-1423
[2]   Idiopathic T cell lymphopenia identified in New York State Newborn Screening [J].
Albin-Leeds, Stephanie ;
Ochoa, Juliana ;
Mehta, Harshna ;
Vogel, Beth H. ;
Caggana, Michele ;
Bonagura, Vincent ;
Lehman, Heather ;
Ballow, Mark ;
Rubinstein, Arye ;
Siegel, Subhadra ;
Weiner, Leonard ;
Weinberg, Geoffrey A. ;
Cunningham-Rundles, Charlotte .
CLINICAL IMMUNOLOGY, 2017, 183 :36-40
[3]   Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study [J].
Barbaro, Michela ;
Ohlsson, Annika ;
Borte, Stephan ;
Jonsson, Susanne ;
Zetterstrom, Rolf H. ;
King, Jovanka ;
Winiarski, Jacek ;
von Dobeln, Ulrika ;
Hammarstrom, Lennart .
JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (01) :51-60
[4]   Incidence of severe combined immunodeficiency through newborn screening in a Chinese population [J].
Chien, Yin-Hsiu ;
Chian, Shu-Chuan ;
Chang, Kai-Ling ;
Yu, Hsin-Hui ;
Lee, Wen-I ;
Tsai, Li-Ping ;
Hsu, Li-Wen ;
Hu, Min-Huei ;
Hwu, Wuh-Liang .
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2015, 114 (01) :12-16
[5]   Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation-what to do? [J].
Cowan, Morton J. ;
Gennery, Andrew R. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 136 (05) :1178-1185
[6]   Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville [J].
de Felipe, Beatriz ;
Olbrich, Peter ;
Manuel Lucenas, Jose ;
Delgado-Pecellin, Carmen ;
Pavon-Delgado, Antonio ;
Marquez, Josefina ;
Salamanca, Carmen ;
Soler-Palacin, Pere ;
Ignacio Gonzalez-Granado, Luis ;
Ferreras Antolin, Laura ;
Borte, Stephan ;
Neth, Olaf .
PEDIATRIC ALLERGY AND IMMUNOLOGY, 2016, 27 (01) :70-77
[7]   Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening [J].
Dorsey, Morna J. ;
Dvorak, Christopher C. ;
Cowan, Morton J. ;
Puck, Jennifer M. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (03) :733-742
[8]   Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency [J].
Dvorak, Christopher C. ;
Hassan, Amel ;
Slatter, Mary A. ;
Hoenig, Manfred ;
Lankester, Arjan C. ;
Buckley, Rebecca H. ;
Pulsipher, Michael A. ;
Davis, Jeffrey H. ;
Guengoer, Tayfun ;
Gabriel, Melissa ;
Bleesing, Jacob H. ;
Bunin, Nancy ;
Sedlacek, Petr ;
Connell, James A. ;
Crawford, David F. ;
Notarangelo, Luigi D. ;
Pai, Sung-Yun ;
Hassid, Jake ;
Veys, Paul ;
Gennery, Andrew R. ;
Cowan, Morton J. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 134 (04) :935-U263
[9]   Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management [J].
Griffith, Linda M. ;
Cowan, Morton J. ;
Notarangelo, Luigi D. ;
Puck, Jennifer M. ;
Buckley, Rebecca H. ;
Candotti, Fabio ;
Conley, Mary Ellen ;
Fleisher, Thomas A. ;
Gaspar, H. Bobby ;
Kohn, Donald B. ;
Ochs, Hans D. ;
O'Reilly, Richard J. ;
Rizzo, J. Douglas ;
Roifman, Chaim M. ;
Small, Trudy N. ;
Shearer, William T. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 124 (06) :1152-1160
[10]   B-cell reconstitution for SCID: Should a conditioning regimen be used in SCID treatment? [J].
Haddad, Elie ;
Leroy, Sandrine ;
Buckley, Rebecca H. .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (04) :994-1000