Thymus transplantation in complete DiGeorge syndrome: Immunologic and safety evaluations in 12 patients

Blood

Volumn 102, Issue 3, 2003, Pages 1121-1130

  Markert, M Louise ^a   Sarzotti, Marcella ^b   Ozaki, Daniel A ^b   Sempowski, Gregory D ^b   Rhein, Maria E ^b   Hale, Laura P ^b   Le Deist, Francoise ^b   Alexieff, Marilyn J ^b   Li, Jie ^b   Hauser, Elizabeth R ^b   Haynes, Barton F ^b   Rice, Henry E ^b   Skinner, Michael A ^b   Mahaffey, Samuel M ^b   Jaggers, James ^b   Stein, Leonard D ^b   Mill, Michael R ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CD4 ANTIGEN; CD8 ANTIGEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN E; MITOGENIC AGENT; PHYTOHEMAGGLUTININ; T LYMPHOCYTE RECEPTOR BETA CHAIN; TETANUS TOXOID;

ALOPECIA; ANTIGEN SPECIFICITY; ARTICLE; ARTIFICIAL VENTILATION; B LYMPHOCYTE; CELL MATURATION; CHILD DEATH; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; DIGEORGE SYNDROME; DISEASE ASSOCIATION; EOSINOPHILIA; FATALITY; FLOW CYTOMETRY; HOME; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; IMMUNE RESPONSE; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; LYMPHADENOPATHY; LYMPHOCYTE COUNT; LYMPHOCYTE PROLIFERATION; PEDIATRIC SURGERY; PHASE 1 CLINICAL TRIAL; PNEUMONIA; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; RASH; RISK FACTOR; SAFETY; T LYMPHOCYTE; THROMBOCYTOPENIA; THYMUS FUNCTION; THYMUS TRANSPLANTATION; TISSUE CULTURE; TRACHEOSTOMY;

EID: 0041743085     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-08-2545     Document Type: Article

References (54)

1. Thomas RA, Landing BH, Wells TR. Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge Anomaly (DGA). Am J Med Genetics. 1987;3(suppl):43-66.
2. DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. In: Bergsma D, ed. Birth Defects Original Article Series, IV [letter]. White Plains, NY: The National Foundation March of Dimes; 1968:116.
3. Conley ME, Beckwith JB, Mancer JF, Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr. 1979;94:883-890.
4. de la Chapelle A, Herva R, Koivisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet. 1981;57:253-256.
5. Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet. 1993;30:813-817.
6. Hong R. The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). Semin Hematol. 1998;35:282-290.
7. Muller W, Peter HH, Wilken M, et al. The DiGeorge Syndrome, I: clinical evaluation and course of partial and complete forms of the syndrome. Eur J Pediatr. 1988;147:496-502.
8. Wilson DI, Burn J, Scambler PJ, Goodship. Syndrome of the month: DiGeorge syndrome, part of CATCH-22. J Med Genet. 1993;30:852-856.
9. Driscoll DA, Sullivan KE. DiGeorge syndrome: a chromosome 22q11.1 deletion syndrome. In: Ochs HD, Smith DIE, Puck JM, eds. Primary immunodeficiency diseases. New York, NY: Oxford University Press; 1999:476-489.
10. Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715-723.
11. Metlay LA, Smythe PS, Miller ME. Familial CHARGE syndrome: clinical report with autopsy findings. Am J Med Genet. 1987;26:577-581.
12. Pagon RA, Graham Jr JM, Zonana J, Yong SL. Coloboma, congenital heart disease and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981;99:223-227.
13. Davenport SL, Hefner MA, Mitchell JA. The spectrum of clinical features in CHARGE syndrome. Clin Genet. 1986;29:298-310.
14. Muller W, Peter HH, Kallfelz HC, Franz A, Rieger CH. The DiGeorge sequence, II: immunologic findings in partial and complete forms of the disorder. Eur J Pediatr. 1989;149:96-103.
15. Bastian J, Law S, Vogler L, et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr. 1989;115:391-396.
16. Markert ML, Hummell DS, Rosenblatt HM, et al. Complete DiGeorge Syndrome: persistence of profound immunodeficiency. J Pediatr 1998;132: 15-21.
17. Picker LJ, Treer JR, Ferguson-Darnell B, Collins PA, Buck D, Terstappen LW. Control of lymphocyte recirculation in man, I: differential regulation of the peripheral lymph node homing receptor L-selection on T cells during the virgin to memory cell transition. J Immunol. 1993;150:1105-1121.
18. Livak F, Schatz D. T-cell receptor alpha locus V(D)J recombination by-products are abundant in thymocytes and mature T cells. Mol Cell Biol. 1996;16:609-618.
19. Kong F-k, Chen C-IH, Cooper MD. Thymic function can be accurately monitored by the level of recent T cell emigrants in the circulation. Immunity. 1998;8:97-104.
20. Takeshita S, Toda M, Yamagishi H. Excision products of the T cell receptor gene support a progressive rearrangement model of the alpha/delta locus. EMBO J. 1989;8:3261-3270.
21. Archer E, Chuang T-Y, Hong R. Severe eczema in a patient with DiGeorge's syndrome. Cutis. 1990;45:455-459.
22. FDA Proposed Rule: Suitability determination for donors of human cellular and tissue-based products. Docket no. 97N-484S, CBER 9745 [FR Doc. 99-25378], pages 52696-52723. September 30, 1999. Written comments on information collection by November 1, 1999. Written comments by December 29, 1999.
23. Markert ML, Boeck A, Hale LP, et al. Thymus Transplantation in Complete DiGeorge Syndrome. N Engl J Med. 1999;341:1180-1189.
24. FDA Proposed Rule: Current good tissue practice for manufacturers of human cellular and tissue-based products; inspection and enforcement. Docket no. 97N-484P, CBER 9835 [FR Doc, 0100447], pages 1507-1559. January 8, 2001. Written comments by May 8, 2001. Written comments on information collection by February 7, 2001.
25. Hong R, Moore AL. Organ culture for thymus transplantation. Transplantation. 1996;61:444-448.
26. Douek DC, McFarland RD, Keiser PH, et al. Changes in thymic function with age and during the treatment of HIV infection. Nature. 1998;396: 690-695.
27. Klein AK, Patel DD, Gooding ME, et al. T-cell recovery in adults and children following umbilical cord blood transplantation. Biol Blood Marrow Transplant. 2001;7:454-466.
28. Markert ML, Kostyu DD, Ward FE, et al. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. J Immunol. 1997;158:998-1005.
29. Markert ML, Watson TJ, Kaplan I, Hale LP, Haynes BF. The human thymic microenvironment during organ culture. Clin Immunol Immunopath. 1997;82:26-35.
30. Patel DD, Gooding ME, Parrott RE, Curtis KM, Haynes BF, Buckley RH. Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 2000;342:1325-1332.
31. Pannetier C, Levraud JP, Lim A, Even J, Kourilsky P. The immunoscope approach for the analysis of T-cell repertoires. In: Oksenberg J, ed. The Human Antigen T-cell Receptor: Selected protocols and applications. Austin, TX: RG Landes Company; 1997:287-325.
32. Pannetier C, Cochet M, Darche S, Casrouge A, Zoller M, Kourilsky P. The sizes of the CDR3 hypervariable regions of the murine T-cell receptor beta chains vary as a function of the recombined germ-line segments. Proc Natl Acad Sci U S A. 1993;90:4319-4323.
33. Bousso P, Wahn V, Douagi I, et al. Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor. Proc Natl Acad Sci U S A. 2000;97:274-278.
34. Daw SCM, Taylor C, Kraman M, et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet. 1996;13:458-460.
35. Erkeller-Yuksel FM, Deneys V, Yuksel B, et al. Age-related changes in human blood lymphocyte subpopulations. J Pediatr. 1992;120:216-222.
36. Markert ML, Mjure M, Harville TO, Hulka G, Oldham K. Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. Pediatr Pulmonol. 1997;24:364-369.
37. de Vries E, de Bruin-Versteeg S, Comans-Bitter WM, et al. Longitudinal survey of lymphocyte subpopulations in the first year of life. Pediatr Res. 2000;47:528-537.
38. Key G, Becker MH, Baron B, et al. New Ki-67-equivalent murine monoclonal antibodies (MIB 1-3) generated against bacterially expressed parts of the Ki-67 cDNA containing three 62 base pair repetitive elements encoding for the Ki-67 epitope. Lab Invest. 1993;68:629-636.
39. Buckley RH, Schiff SE, Schiff RI, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficienoy. N Engl J Med. 1999;340:508-516.
40. Goldsobel AB, Haas A, Stiehm ER. Bone marrow transplantation in DiGeorge syndrome. J Pediatr. 1987;111:40-44.
41. Borzy MS, Ridgway D, Noya FJ, Shearer WT. Successful bone marrow transplantation with split lymphoid chimerism in DiGeorge syndrome. J Clin Immunol. 1989;9:386-392.
42. Bowers DC, Lederman HM, Sicherer SH, Winkelstein JA, Chen AR. Immune reconstitution of complete DiGeorge anomaly by transplantation of unmobilized blood mononuclear cells. Lancet. 1998;352:1983-1984.
43. Bensoussan D, Le Deist F, Latger-Cannard V, et al. T-cell immune constitution after peripheral blood mononuclear cell transplantation in complete DiGeorge syndrome. Br J Haematol. 2002; 117:899-906.
44. Duke SG, McGuirt WF Jr, Jewett T, Fasano MB. Velocardiofacial syndrome: incidence of immune cytopenias. Arch Otolaryngol Head Neck Surg. 2000;126:1141-1145.
45. Ham-Pong AJ, Cavallo A, Holman GH, Goldman AS. DiGeorge syndrome: long term survival complicated by Grave's disease. J Pediatr. 1985;106: 619-620.
46. Davis CM, McLaughlin TM, Watson TJ, et al. Normalization of peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome. J Clin Immunol. 1997;17:167-175.
47. Collard HR, Boeck A, McLaughlin TM, et al. Possible extrathymic development of nonfunctional T Cells in a patient with complete DiGeorge syndrome. Clin Immunol. 1999;91:156-162.
48. Starr TK, Jameson SC, Hogquist KA. Positive and negative T cell selection. Annu Rev Immunol. 2003;21:139-176.
49. Sprent J, Kishimoto H. The thymus and central tolerance. Philos Trans R Soc Lond B Biol Sci. 2001;356:609-616.
50. Dhidgey AP, Boyd RL. Thymic stromal cells and positive selection. APMIS. 2001;109:481-492.
51. Res R, Spits H. Developmental stages in the human thymus. Semin Immunol. 1999;11:39-46.
52. Pawlowski T, Elliot JD, Loh DY, Stearz UD. Positive selection of T lymphocytes on fibroblasts. Nature. 1993;364:642-645.
53. Hugo P, Kappler JW, McCormack JE, Marrack P. Fibroblasts can induce thymocyte positive selection in vivo. Proc Natl Acad Sci U S A. 1993;90: 10335-10339.
54. Lilic M, Santori FR, Neilson EG, Frey AB, Vukmanovic S. The role of fibroblasts in thymocyte-positive selection. J Immunol. 2002;169:4945-4950.