Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features

Journal of Clinical Immunology

Volumn 35, Issue 4, 2015, Pages 408-415

  Gul, Kiran A ^a   Øverland, Torstein ^a   Osnes, Liv ^a   Baumbusch, Lars O ^a   Pettersen, Rolf D ^a   Lima, Kari ^a,b   Abrahamsen, Tore G ^a,c  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b AKERSHUS UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF OSLO   (Norway)

Author keywords

22q11.2 deletion syndrome; cardiac defect; newborn screening; T cell receptor excision circles; thymus

Indexed keywords

EXTRACHROMOSOMAL DNA; T CELL TECEPTOR EXCISION CIRCLE; UNCLASSIFIED DRUG; CIRCULAR DNA; LYMPHOCYTE ANTIGEN RECEPTOR;

ARTICLE; BLOOD SAMPLING; CARDIOVASCULAR MALFORMATION; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CELLULAR IMMUNITY; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA EXTRACTION; DRIED BLOOD SPOT TESTING; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LYMPHOCYTOPENIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; PROGNOSIS; T LYMPHOCYTE SUBPOPULATION; THYMUS APLASIA; BLOOD; CHROMOSOME DELETION; COMPLICATION; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; FEMALE; GENETICS; IMMUNOPHENOTYPING; INFECTION; MALE; METABOLISM; ORGAN SIZE; PATHOLOGY; THYMUS;

CHROMOSOME DELETION; DIGEORGE SYNDROME; DNA, CIRCULAR; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IMMUNOPHENOTYPING; INFANT, NEWBORN; INFECTION; MALE; ORGAN SIZE; RECEPTORS, ANTIGEN, T-CELL; T-LYMPHOCYTE SUBSETS; THYMUS GLAND;

EID: 84929836223     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0153-5     Document Type: Article

References (37)

1. Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101–7.
2. Devriendt K, Fryns JP, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998;35:789–90.
3. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993;30:813–7.
4. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148–51.
5. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798–804.
6. Kitsiou-Tzeli S, Kolialexi A, Fryssira H, Galla-Voumvouraki A, Salavoura K, Kanariou M, et al. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features. In Vivo. 2004;18:603–8.
7. Baldini A. DiGeorge syndrome: an update. Curr Opin Cardiol. 2004;19:201–4.
8. Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, et al. The DNA sequence of human chromosome 22. Nature. 1999;402:489–95.
9. Frohn-Mulder IM, Wesby SE, Bouwhuis C, Van Hemel JO, Gerritsma E, Niermeyer MF, et al. Chromosome 22q11 deletions in patients with selected outflow tract malformations. Genet Couns. 1999;10:35–41.
10. Maeda J, Yamagishi H, McAnally J, Yamagishi C, Srivastava D. Tbx1 is regulated by forkhead proteins in the secondary heart field. Dev Dyn. 2006;235:701–10.
11. Xu H, Cerrato F, Baldini A. Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Development. 2005;132:4387–95.
12. Zhang Z, Cerrato F, Xu H, Vitelli F, Morishima M, Vincentz J, et al. Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development. Development. 2005;132:5307–15.
13. Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet. 2001;27:293–8.
14. Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, et al. Phenotypic variability of atypical 22q11.2 deletions not including TBX1. Am J Med Genet A. 2012;158A:2412–20.
15. Sullivan KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. Immunol Allergy Clin North Am. 2008;28:353–66.
16. Douek DC, McFarland RD, Keiser PH, Gage EA, Massey JM, Haynes BF, et al. Changes in thymic function with age and during the treatment of HIV infection. Nature. 1998;396:690–5.
17. Hazenberg MD, Verschuren MC, Hamann D, Miedema F, van Dongen JJ. T cell receptor excision circles as markers for recent thymic emigrants: basic aspects, technical approach, and guidelines for interpretation. J Mol Med (Berl). 2001;79:631–40.
18. Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009;124:522–7.
19. Puck JM. Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr. 2011;23:667–73.
20. Lingman FJ, Borte S. D.U. von, L. Hammarstrom, S. Oskarsdottir, Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome. J Clin Immunol. 2014;34:514–9.
21. Cruickshank MN, Pitt J, Craig JM. Going back to the future with Guthrie-powered epigenome-wide association studies. Genome Med. 2012;4:83.
22. Gerstel-Thompson JL, Wilkey JF, Baptiste JC, Navas JS, Pai SY, Pass KA, et al. 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;56:1466–74.
23. Comans-Bitter WM, de Groot R, van den Beemd R, Neijens HJ, Hop WC, Groeneveld K, et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J Pediatr. 1997;130:388–93.
24. Lima K, Abrahamsen TG, Foelling I, Natvig S, Ryder LP, Olaussen RW. Low thymic output in the 22q11.2 deletion syndrome measured by CCR9 + CD45RA+ T cell counts and T cell receptor rearrangement excision circles. Clin Exp Immunol. 2010;161:98–107.
25. Piliero LM, Sanford AN, McDonald-McGinn DM, Zackai EH, Sullivan KE. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103:1020–5.
26. Pierdominici M, Mazzetta F, Caprini E, Marziali M, Digilio MC, Marino B, et al. Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Exp Immunol. 2003;132:323–31.
27. Shah SS, Lai SY, Ruchelli E, Kazahaya K, Mahboubi S. Retropharyngeal aberrant thymus. Pediatrics. 2001;108:E94.
28. Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009;123:e871–7.
29. Barrett DJ, Ammann AJ, Wara DW, Cowan MJ, Fisher TJ, Stiehm ER. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981;6:1–6.
30. Bastian J, Law S, Vogler L, Lawton A, Herrod H, Anderson S, et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr. 1989;115:391–6.
31. Jawad AF, McDonald-McGinn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715–23.
32. Kornfeld SJ, Zeffren B, Christodoulou CS, Day NK, Cawkwell G, Good RA. DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. J Allergy Clin Immunol. 2000;105:983–7.
33. Eberle P, Berger C, Junge S, Dougoud S, Buchel EV, Riegel M, et al. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clin Exp Immunol. 2009;155:189–98.
34. Repetto GM, Guzman ML, Delgado I, Loyola H, Palomares M, Lay-Son G, et al. Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study. BMJ Open. 2014;4:e005041.
35. Gittenberger-de Groot AC, Bartelings MM, Deruiter MC, Poelmann RE. Basics of cardiac development for the understanding of congenital heart malformations. Pediatr Res. 2005;57:169–76.
36. McCarthy M. Developemental pathways that shape the heart. Lancet. 2014;351:1564.
37. Eriksen HB, Biering-Sorensen S, Lund N, Correia C, Rodrigues A, Andersen A, et al. Factors associated with thymic size at birth among low and normal birth-weight infants. J Pediatr. 2014;165:713–21.