Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 586-591

  Punwani, Divya ^a   Gonzalez Espinosa, Diana ^a   Comeau, Anne Marie ^b   Dutra, Amalia ^c   Pak, Evgenia ^c   Puck, Jennifer ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Calibrator; Newborn screening; Primary immunodeficiency; SCID; Test standardization; TREC

Indexed keywords

DNA; PUROMYCIN; T CELL RECEPTOR EXCISION CIRCLE; UNCLASSIFIED DRUG;

ARTICLE; ASSAY; B LYMPHOCYTE; CELL LINE; CHROMOSOME STRUCTURE; CONTROLLED STUDY; DNA DETERMINATION; DRIED BLOOD SPOT TESTING; EPSTEIN BARR VIRUS; GENOME; HUMAN; HUMAN TISSUE; LENTIVIRINAE; LYMPHOCYTOPENIA; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE RECEPTOR GENE;

B-LYMPHOCYTES; BIOLOGICAL MARKERS; CELL LINE, TRANSFORMED; DNA COPY NUMBER VARIATIONS; DNA, CIRCULAR; DRIED BLOOD SPOT TESTING; GENE REARRANGEMENT, T-LYMPHOCYTE; GENES, REPORTER; GENETIC VECTORS; HERPESVIRUS 4, HUMAN; HUMANS; INFANT, NEWBORN; LENTIVIRUS; LYMPHOCYTE COUNT; LYMPHOPENIA; NEONATAL SCREENING; POLYMERASE CHAIN REACTION; RECEPTORS, ANTIGEN, T-CELL; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES;

HUMAN HERPESVIRUS 4; LENTIVIRUS;

EID: 84867895958     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.018     Document Type: Article

References (32)

1. Douek D.C., McFarland R.D., Keiser P.H., Gage E.A., Massey J.M., Haynes B.F., Polis M.A., Haase A.T., Feinberg M.B., Sullivan J.L., et al. Changes in thymic function with age and during the treatment of HIV infection. Nature 1998, 396(6712):690-695.
2. Hazenberg M.D., Verschuren M.C., Hamann D., Miedema F., van Dongen J.J. T cell receptor excision circles as markers for recent thymic emigrants: basic aspects, technical approach, and guidelines for interpretation. J. Mol. Med. 2001, 79(11):631-640.
3. Verschuren M.C., Wolvers-Tettero I.L., Breit T.M., Noordzij J., van Wering E.R., van Dongen J.J. Preferential rearrangements of the T cell receptor-delta-deleting elements in human T cells. J. Immunol. 1997, 158(3):1208-1216.
4. Schonland S.O., Zimmer J.K., Lopez-Benitez C.M., Widmann T., Ramin K.D., Goronzy J.J., Weyand C.M. Homeostatic control of T-cell generation in neonates. Blood 2003, 102(4):1428-1434.
5. Douek D.C., Vescio R.A., Betts M.R., Brenchley J.M., Hill B.J., Zhang L., Berenson J.R., Collins R.H., Koup R.A. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet 2000, 355(9218):1875-1881.
6. Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2005, 115(2):391-398.
7. Buckley R.H., Schiff R.I., Schiff S.E., Markert M.L., Williams L.W., Harville T.O., Roberts J.L., Puck J.M. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J. Pediatr. 1997, 130(3):378-387.
8. Belmont J.W., Puck J.M. T cell and combined immunodeficiency disorders. The Metabolic and Molecular Bases of Inherited Diseasey 2003, 4751-4783. McGraw-Hill, New York. A.L. Beaudet, C.R. Schriver, W.S. Sly, D. Valle (Eds.).
9. Buckley R. Primary immunodeficiency diseases due to defects in lymphocytes. N. Engl. J. Med. 2000, 343(18):1313-1324.
10. Ochs Hans D., Edvard Smith C.I., Puck Jennifer M. Primary Immunodeficiency Diseases 1999.
11. Buckley R.H., Schiff S.E., Schiff R.I., Markert L., Williams L.W., Roberts J.L., Myers L.A., Ward F.E. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 1999, 340(7):508-516.
12. Hershfield M.S. Enzyme replacement therapy of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase (PEG-ADA). Immunodeficiency 1993, 4(1-4):93-97.
13. Chan B., Wara D., Bastian J., Hershfield M.S., Bohnsack J., Azen C.G., Parkman R., Weinberg K., Kohn D.B. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin. Immunol. 2005, 117(2):133-143.
14. Grunebaum E., Roifman C.M. Bone marrow transplantation using HLA-matched unrelated donors for patients suffering from severe combined immunodeficiency. Hematol. Oncol. Clin. North Am. 2011, 25(1):63-73.
15. Fischer A., Hacein-Bey-Abina S., Cavazzana-Calvo M. 20 years of gene therapy for SCID. Nat. Immunol. 2010, 11(6):457-460.
16. Hatzakis A., Touloumi G., Karanicolas R., Karafoulidou A., Mandalaki T., Anastassopoulou C., Zhang L., Goedert J.J., Ho D.D., Kostrikis L.G. Effect of recent thymic emigrants on progression of HIV-1 disease. Lancet 2000, 355(9204):599-604.
17. Ye P., Kirschner D.E., Kourtis A.P. The thymus during HIV disease: role in pathogenesis and in immune recovery. Curr. HIV Res. 2004, 2(2):177-183.
18. Somech R. T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders. Curr. Opin. Allergy Clin. Immunol. 2011, 11(6):517-524.
19. Lindegren M.L., Kobrynski L., Rasmussen S.A., Moore C.A., Grosse S.D., Vanderford M.L., Spira T.J., et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm. Rep. 2004, 53(RR-1):1-29.
20. McGhee S.A., Stiehm E.R., McCabe E.R. Potential costs and benefits of newborn screening for severe combined immunodeficiency. J. Pediatr. 2005, 147(5):603-608.
21. Puck J.M. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J. Allergy Clin. Immunol. 2007, 120(4):760-768.
22. Puck J.M. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J. Allergy Clin. Immunol. 2012, 129(3):607-616.
23. Kuehn B.M. State, federal efforts under way to identify children with "bubble boy syndrome". JAMA 2010, 304(16):1771-1773.
24. Verbsky J., Thakar M., Routes J. The Wisconsin approach to newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2012, 129(3):622-627.
25. Routes J.M., Grossman W.J., Verbsky J., Laessig R.H., Hoffman G.L., Brokopp C.D., Baker M.W. Statewide newborn screening for severe T-cell lymphopenia. JAMA 2009, 302(22):2465-2470.
26. Gerstel-Thompson J.L., Wilkey J.F., Baptiste J.C., Navas J.S., Pai S.Y., Pass K.A., Eaton R.B., Comeau A.M. 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. Clin. Chem. 2010, 56(9):1466-1474.
27. Hazan-Halevy I., Harris D., Liu Z., Liu J., Li P., Chen X., Shanker S., Ferrajoli A., Keating M.J., Estrov Z. STAT3 is constitutively phosphorylated on serine 727 residues, binds DNA, and activates transcription in CLL cells. Blood 2010, 115(14):2852-2863.
28. Swainson L., Mongellaz C., Adjali O., Vicente R., Taylor N. Lentiviral transduction of immune cells. Methods Mol. Biol. 2008, 415:301-320.
29. Karkera J.D., Izraeli S., Roessler E., Dutra A., Kirsch I., Muenke M. The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly. Cytogenet. Genome Res. 2002, 97(1-2):62-67.
30. Harris J.M., Hazenberg M.D., Poulin J.F., Higuera-Alhino D., Schmidt D., Gotway M., McCune J.M. Multiparameter evaluation of human thymic function: interpretations and caveats. Clin. Immunol. 2005, 115(2):138-146.
31. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25(4):402-408.
32. Myers L.A., Patel D.D., Puck J.M., Buckley R.H. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 2002, 99(3):872-878.