The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome

PLoS ONE

Volumn 9, Issue 12, 2014, Pages

  Froňková, Eva ^a   Klocperk, Adam ^a   Svatoň, Michael ^a   Nováková, Michaela ^a   Kotrová, Michaela ^a   Kayserová, Jana ^a   Kalina, Tomáš ^a   Keslová, Petra ^a   Votava, Felix ^b   Vinohradská, Hana ^c   Freiberger, Tomáš ^c,d   Mejstříkova, Ester ^a   Trka, Jan ^a   Šedivá, Anna ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c MASARYK UNIVERSITY   (Czech Republic)

^d CENTRE FOR CARDIOVASCULAR SURGERY AND TRANSPLANTATION   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; CIRCULAR DNA;

ADOLESCENT; ADULT; ARTICLE; ASSAY; AUTOIMMUNITY; BLOOD; CHILD; CONTROLLED STUDY; DIGEORGE SYNDROME; DRIED BLOOD SPOT TESTING; HUMAN; IMMUNE DEFICIENCY; KAPPA DELETING ELEMENT RECOMBINATION CIRCLE ASSAY; LYMPHOCYTOPOIESIS; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; NATURAL KILLER CELL; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; SCREENING TEST; T CELL RECOMBINATION EXCISION CIRCLE ASSAY; T LYMPHOCYTE; BIOASSAY; CELL CULTURE; FEMALE; GENETICS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; INFANT; MALE; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION; SEVERE COMBINED IMMUNODEFICIENCY;

ADOLESCENT; BIOLOGICAL ASSAY; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DIGEORGE SYNDROME; DNA, CIRCULAR; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; REAL-TIME POLYMERASE CHAIN REACTION; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES;

EID: 84915819786     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0114514     Document Type: Article

References (25)

1. Davies EG (2013) Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol 4: 322
2. Chinn IK, Milner JD, Scheinberg P, Douek DC, Markert ML (2013) Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3- T cells in complete DiGeorge anomaly. Clin Exp Immunol 173: 140-9
3. Gennery AR (2012) Immunological aspects of 22q11.2 deletion syndrome. Cell Mol life Sci 69: 12-27
4. Murray JM, Kaufmann GR, Hodgkin PD, Lewin SR, Kelleher AD, et al. (2003) Naive T cells are maintained by thymic output in early ages but by proliferation without phenotypic change after age twenty. Immunol Cell Biol 81: 487-95
5. Van Zelm MC, van der Burg M, Langerak AW, van Dongen JJM (2011) PID comes full circle: applications of V(D)J recombination excision circles in research, diagnostics and newborn screening of primary immunodeficiency disorders. Front Immunol 2: 12
6. Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, et al. (2013) Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol 132: 140-50
7. Kelly BT, Tam JS, Verbsky JW, Routes JM (2013) Screening for severe combined immunodeficiency in neonates. Clin Epidemiol 5: 363-9
8. Van Zelm MC, Szczepanski T, van der Burg M, van Dongen JJM (2007) Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med 204: 645-55
9. Borte S, Wang N, Oskarsdóttir S, von Döbeln U, Hammarström L (2011) Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Ann N Y Acad Sci 1246: 118-30
10. Patel K, Akhter J, Kobrynski L, Benjamin Gathmann MA, Davis O, et al. (2012) Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. J Pediatr 161: 950-3
11. Pongers-Willemse M, Verhagen OJ, Tibbe GJ, Wijkhuijs AJ, de Haas V, et al. (1998) Real-time quantitative PCR for the detection of minimal residual disease in acute lymphoblastic leukemia using junctional region specific TaqMan probes. Leukemia 12: 2006-14
12. Weinberg K, Blazar BR, Wagner JE, Aqura E, Hill BJ, et al. (2001) Factors affecting thymic function after allogeneic hematopoietic stem cell transplantation. Blood 97: 1458-1466
13. Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, et al. (2013) Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin k-deleting recombination excision circles. J Allergy Clin Immunol 131: 1437-40.e5
14. Janda A, Sedlacek P, Mejstrikova E, Zdrahalova K, Hrusak O, et al. (2007) Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant 11: 441-447
15. Lima K, Abrahamsen TG, Foelling I, Natvig S, Ryder LP, et al. (2010) 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 161: 98-107
16. Sottini A, Ghidini C, Zanotti C, Chiarini M, Caimi L, et al. (2010) Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation. Clin Immunol 136: 217-27
17. Lingman Framme J, Borte S, von Döbeln U, Hammarström L, Oskarsdóttir S (2014) Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome. J Clin Immunol. doi: 10.1007/s10875-014-0002-y
18. Šedivá A, Bartu˚ňková J, Zachová R, Poloučková A, Hrušák O, et al. (2005) Early development of immunity in diGeorge syndrome. Med Sci Monit 11: CR182-7
19. Cancrini C, Romiti ML, Finocchi A, Di Cesare S, Ciaffi P, et al. (2005) Post-natal ontogenesis of the Tcell receptor CD4 and CD8 Vbeta repertoire and immune function in children with DiGeorge syndrome. J Clin Immunol 25: 265-74
20. Pierdominici M, Mazzetta F, Caprini E, Marziali M, Digilio MC, et al. (2003) Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Exp Immunol 132: 323-31
21. Den Braber I, Mugwagwa T, Vrisekoop N, Westera L, Mögling R, et al. (2012) Maintenance of peripheral naive T cells is sustained by thymus output in mice but not humans. Immunity 36: 288-97
22. Adams SP, Rashid S, Premachandra T, Harvey K, Ifederu A, et al. (2014) Screening of neonatal UK dried blood spots using a duplex TREC screening assay. J Clin Immunol. 2014 Apr;, 34(3): 323-30.
23. McClory S, Hughes T, Freud AG, Briercheck EL, Martin C, et al. (2012) Evidence for a stepwise program of extrathymic T cell development within the human tonsil. J Clin Invest 122: 1403-15
24. Junker K, Driscoll D (1995) Humoral immunity in DiGeorge syndrome. J Pediatr 127: 231-7
25. Fronkova E, Muzikova K, Mejstrikova E, Kovac M, Formankova R, et al. (2008): B-cell reconstitution after allogeneic SCT impairs minimal residual disease monitoring in children with ALL. Bone Marrow Transplant 42(3): 187-96.