Literature DB >> 19238335

Immunologic reconstitution in 22q deletion (DiGeorge) syndrome.

Sean A McGhee1, Maria Garcia Lloret, E Richard Stiehm.   

Abstract

Adoptive transfer of mature T cells (ATMTC) through bone marrow (BM) transplantation, first attempted over 20 years ago, has recently emerged as a successful therapy for complete 22q deletion syndrome (22qDS). This provides a potential option to thymic transplantation (TT) for immune reconstitution in 22qDS. Compared to thymic transplant, ATMTC is an easier procedure to accomplish and is available at more centers. However, there are differences in the nature of the T-cell reconstitution that results. Predictably, more naïve T cells and recent thymic emigrants are present in patients treated with thymus transplant. There are no significant differences in mortality between the two procedures, but the number of patients is too limited to conclude that the procedures are equally effective. Adoptive transfer should be pursued as a reasonable treatment for 22qDS patients requiring immune reconstitution when thymus transplant is not available.

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Year:  2009        PMID: 19238335     DOI: 10.1007/s12026-009-8108-7

Source DB:  PubMed          Journal:  Immunol Res        ISSN: 0257-277X            Impact factor:   2.829


  31 in total

Review 1.  The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.

Authors:  Kathleen E Sullivan
Journal:  Curr Opin Allergy Clin Immunol       Date:  2004-12

2.  Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  A F Jawad; D M McDonald-Mcginn; E Zackai; K E Sullivan
Journal:  J Pediatr       Date:  2001-11       Impact factor: 4.406

3.  Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients.

Authors:  M Louise Markert; Marcella Sarzotti; Daniel A Ozaki; Gregory D Sempowski; Maria E Rhein; Laura P Hale; Francoise Le Deist; Marilyn J Alexieff; Jie Li; Elizabeth R Hauser; Barton F Haynes; Henry E Rice; Michael A Skinner; Samuel M Mahaffey; James Jaggers; Leonard D Stein; Michael R Mill
Journal:  Blood       Date:  2003-04-17       Impact factor: 22.113

4.  Transplantation of thymus tissue in complete DiGeorge syndrome.

Authors:  M L Markert; A Boeck; L P Hale; A L Kloster; T M McLaughlin; M N Batchvarova; D C Douek; R A Koup; D D Kostyu; F E Ward; H E Rice; S M Mahaffey; S E Schiff; R H Buckley; B F Haynes
Journal:  N Engl J Med       Date:  1999-10-14       Impact factor: 91.245

5.  Interleukin-7 mediates the homeostasis of naïve and memory CD8 T cells in vivo.

Authors:  K S Schluns; W C Kieper; S C Jameson; L Lefrançois
Journal:  Nat Immunol       Date:  2000-11       Impact factor: 25.606

6.  Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome.

Authors:  A R Gennery; D Barge; J J O'Sullivan; T J Flood; M Abinun; A J Cant
Journal:  Arch Dis Child       Date:  2002-06       Impact factor: 3.791

7.  Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases.

Authors:  M Louise Markert; Marilyn J Alexieff; Jie Li; Marcella Sarzotti; Daniel A Ozaki; Blythe H Devlin; Gregory D Sempowski; Maria E Rhein; Paul Szabolcs; Laura P Hale; Rebecca H Buckley; Katharine E Coyne; Henry E Rice; Samuel M Mahaffey; Michael A Skinner
Journal:  J Allergy Clin Immunol       Date:  2004-04       Impact factor: 10.793

8.  Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

Authors:  M Louise Markert; Blythe H Devlin; Marilyn J Alexieff; Jie Li; Elizabeth A McCarthy; Stephanie E Gupton; Ivan K Chinn; Laura P Hale; Thomas B Kepler; Min He; Marcella Sarzotti; Michael A Skinner; Henry E Rice; Jeffrey C Hoehner
Journal:  Blood       Date:  2007-02-06       Impact factor: 22.113

9.  Interleukin 7 and T cell receptor signals regulate homeostasis of CD4 memory cells.

Authors:  Benedict Seddon; Peter Tomlinson; Rose Zamoyska
Journal:  Nat Immunol       Date:  2003-06-15       Impact factor: 25.606

10.  Interleukin (IL)-15 and IL-7 jointly regulate homeostatic proliferation of memory phenotype CD8+ cells but are not required for memory phenotype CD4+ cells.

Authors:  Joyce T Tan; Bettina Ernst; William C Kieper; Eric LeRoy; Jonathan Sprent; Charles D Surh
Journal:  J Exp Med       Date:  2002-06-17       Impact factor: 14.307

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  10 in total

Review 1.  Transplantation immunology: solid organ and bone marrow.

Authors:  Javier Chinen; Rebecca H Buckley
Journal:  J Allergy Clin Immunol       Date:  2010-02       Impact factor: 10.793

Review 2.  Immunological aspects of 22q11.2 deletion syndrome.

Authors:  A R Gennery
Journal:  Cell Mol Life Sci       Date:  2011-10-09       Impact factor: 9.261

3.  Clinical experience in T cell deficient patients.

Authors:  Theresa S Cole; Andrew J Cant
Journal:  Allergy Asthma Clin Immunol       Date:  2010-05-13       Impact factor: 3.406

Review 4.  Genetics of SCID.

Authors:  Fausto Cossu
Journal:  Ital J Pediatr       Date:  2010-11-15       Impact factor: 2.638

Review 5.  Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Authors:  Caroline Y Kuo; Rebecca Signer; Sulagna C Saitta
Journal:  Curr Allergy Asthma Rep       Date:  2018-10-30       Impact factor: 4.806

Review 6.  FOXN1 deficient nude severe combined immunodeficiency.

Authors:  Ioanna A Rota; Fatima Dhalla
Journal:  Orphanet J Rare Dis       Date:  2017-01-11       Impact factor: 4.123

7.  Thymus transplantation for complete DiGeorge syndrome: European experience.

Authors:  E Graham Davies; Melissa Cheung; Kimberly Gilmour; Jesmeen Maimaris; Joe Curry; Anna Furmanski; Neil Sebire; Neil Halliday; Konstantinos Mengrelis; Stuart Adams; Jolanta Bernatoniene; Ronald Bremner; Michael Browning; Blythe Devlin; Hans Christian Erichsen; H Bobby Gaspar; Lizzie Hutchison; Winnie Ip; Marianne Ifversen; T Ronan Leahy; Elizabeth McCarthy; Despina Moshous; Kim Neuling; Malgorzata Pac; Alina Papadopol; Kathryn L Parsley; Luigi Poliani; Ida Ricciardelli; David M Sansom; Tiia Voor; Austen Worth; Tessa Crompton; M Louise Markert; Adrian J Thrasher
Journal:  J Allergy Clin Immunol       Date:  2017-04-08       Impact factor: 10.793

8.  Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection.

Authors:  Maria Chitty-Lopez; Carla Duff; Gretchen Vaughn; Jessica Trotter; Hector Monforte; David Lindsay; Elie Haddad; Michael D Keller; Benjamin R Oshrine; Jennifer W Leiding
Journal:  Front Immunol       Date:  2022-01-14       Impact factor: 7.561

9.  Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.

Authors:  Jenny Lingman Framme; Christina Lundqvist; Anna-Carin Lundell; Pauline A van Schouwenburg; Andri L Lemarquis; Karolina Thörn; Susanne Lindgren; Judith Gudmundsdottir; Vanja Lundberg; Sofie Degerman; Rolf H Zetterström; Stephan Borte; Lennart Hammarström; Esbjörn Telemo; Magnus Hultdin; Mirjam van der Burg; Anders Fasth; Sólveig Oskarsdóttir; Olov Ekwall
Journal:  J Clin Immunol       Date:  2022-01-26       Impact factor: 8.542

Review 10.  Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.

Authors:  E Graham Davies
Journal:  Front Immunol       Date:  2013-10-31       Impact factor: 7.561

  10 in total

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