Post-Transplantation B Cell Function in Different Molecular Types of SCID (original) (raw)

• Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. 2011;49(1–3):25–43.
  Article PubMed Google Scholar
• Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, et al. Hematopoietic stem cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340:508–16.
  Article PubMed CAS Google Scholar
• Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002;99(3):872–8.
  Article PubMed CAS Google Scholar
• Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, et al. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993;2:1099–104.
  Article PubMed CAS Google Scholar
• Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73:147–57.
  Article PubMed CAS Google Scholar
• Hirschhorn R. Immunodeficiency diseases due to deficiency of adenosine deaminase. In: Ochs HD, Smith CIE, Puck JM, editors. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. 1st ed. New York and Oxford: Oxford University Press; 1999. p. 121–39.
  Google Scholar
• Roberts JL, Lengi A, Brown SM, Chen M, Zhou Y-J, O’Shea JJ, et al. Janus Kinase 3 (JAK3) deficiency: clinical, immunologic and molecular analyses of 10 patients and outcomes of stem cell transplantation. Blood. 2004;103:209–18.
  Article Google Scholar
• Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(−)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20(4):394–7.
  Article PubMed CAS Google Scholar
• Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, et al. RAG mutations in human B cell-negative SCID. Science. 1996;274:97–9.
  Article PubMed CAS Google Scholar
• Roberts JL, Buckley RH, Luo B, Pei J, Lapidus A, Peri S, et al. CD45-deficient severe combined immunodeficiency caused by uniparental disomy. Proc Natl Acad Sci U S A. 2012;109:10456–61.
  Google Scholar
• Moshous D, Li L, Chasseval R, Philippe N, Jabado N, Cowan MJ, et al. A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p. Hum Mol Genet. 2000;9(4):583–8.
  Article PubMed CAS Google Scholar
• Buck D, Moshous D, de Chasseval R, Ma Y, Le Deist F, Cavazzana-Calvo M, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 2006;36(1):224–35.
  Article PubMed CAS Google Scholar
• van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, et al. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. J Clin Invest. 2009;119(1):91–8.
  PubMed Google Scholar
• Dadi HK, Simon AJ, Roifman CM. Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med. 2003;349(19):1821–8.
  Article PubMed CAS Google Scholar
• de Saint Basile G, Geissmann F, Flori E, Uring-Lambert B, Soudais C, Cavazzana-Calvo M, et al. Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. J Clin Invest. 2004;114(10):1512–7.
  PubMed Google Scholar
• Roberts JL, Lauritsen JHP, Cooney M, Parrott RE, Sajaroff EO, Win CM, et al. T-B+ NK+ severe combined immunodeficiency caused by complete deficiency of the CD3 zeta subunit of the T cell antigen receptor complex. Blood. 2007;109:3198–206.
  Article PubMed CAS Google Scholar
• Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, Knutsen AP, et al. Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J Immunol. 1986;136:2398–407.
  PubMed CAS Google Scholar
• Moen RC, Horowitz SD, Sondel PM, Borcherding WR, Trigg ME, Billing R, et al. Immunologic reconstitution after haploidentical bone marrow transplantation for immune deficiency disorders: treatment of bone marrow cells with monoclonal antibody CT-2 and complement. Blood. 1987;70:664–9.
  PubMed CAS Google Scholar
• Dror Y, Gallagher R, Wara DW, Colombe BW, Merino A, Benkerrou M, et al. Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T cell depleted haplocompatible bone marrow transplantation. Blood. 1993;81:2021–30.
  PubMed CAS Google Scholar
• Sarzotti-Kelsoe M, Win CM, Parrott RE, Cooney M, Moser BK, Roberts JL, et al. Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood. 2009;114(7):1445–53.
  Article PubMed CAS Google Scholar
• Haddad E, Deist FL, Aucouturier P, Cavazzana-Calvo M, Blanche S, Basile GD, et al. Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: a single-center study of 22 patients. Blood. 1999;94(8):2923–30.
  PubMed CAS Google Scholar
• van Leeuwen JE, van Tol MJ, Joosten AM, Schellekens PT, van den Bergh RL, Waaijer JL, et al. Relationship between patterns of engraftment in peripheral blood and immune reconstitution after allogeneic bone marrow transplantation for (severe) combined immunodeficiency. Blood. 1994;84:3936–47.
  PubMed Google Scholar
• O’Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, Li L, et al. Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans. Bone Marrow Transplant. 2001;27(7):703–9.
  Article PubMed Google Scholar
• Mazzolari E, Forino C, Guerci S, Imberti L, Lanfranchi A, Porta F, et al. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol. 2007;120(4):892–9.
  Article PubMed CAS Google Scholar
• Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D, et al. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood. 2009;113(17):4114–24.
  Article PubMed CAS Google Scholar
• Patel NC, Chinen J, Rosenblatt HM, Hanson IC, Brown BS, Paul ME, et al. Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb. J Allergy Clin Immunol. 2008;122(6):1185–93.
  Article PubMed CAS Google Scholar
• Patel NC, Chinen J, Rosenblatt HM, Hanson IC, Krance RA, Paul ME, et al. Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning. J Allergy Clin Immunol. 2009;124(5):1062–9.
  Article PubMed CAS Google Scholar
• Slatter MA, Brigham K, Dickinson AM, Harvey HL, Barge D, Jackson A, et al. Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency. J Allergy Clin Immunol. 2007;121:361–7.
  Article PubMed Google Scholar
• Dvorak CC, Hung GY, Horn B, Dunn E, Oon CY, Cowan MJ. Megadose CD34(+) cell grafts improve recovery of T cell engraftment but not B cell immunity in patients with severe combined immunodeficiency disease undergoing haplocompatible nonmyeloablative transplantation. Biol Blood Marrow Transplant. 2008;14(10):1125–33.
  Article PubMed CAS Google Scholar
• Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, et al. IL-21 is the primary common gamma chain-binding cytokine required for human B-cell differentiation in vivo. Blood. 2011;118(26):6824–35.
  Article PubMed CAS Google Scholar
• Buckley RH. B cell function in severe combined immunodeficiency after stem cell or gene therapy: A review. J Allergy Clin Immunol. 2010;125:790–7.
  Google Scholar
• Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. 2011;49:25–43.
  Article PubMed Google Scholar
• Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell. 2001;105(2):177–86.
  Article PubMed CAS Google Scholar
• Buckley RH, Dees SC, O’Fallon WM. Serum immunoglobulins I. levels in normal children and in uncomplicated childhood allergy. Pediatrics. 1968;41:600–11.
  PubMed CAS Google Scholar
• Buckley RH, Dees SC. Serum immunoglobulins. III. Abnormalities associated with chronic urticaria in children. J Allergy. 1967;40:294–303.
  Article PubMed CAS Google Scholar
• Ochs HD, Davis SD, Wedgwood RJ. Immunologic responses to bacteriophage phi-X 174 in immunodeficiency diseases. J Clin Invest. 1971;50(12):2559–68.
  Article PubMed CAS Google Scholar
• Van Den Berg H, Vossen JM, van den Bergh RL, Bayer J, van Tol MJD. Detection of Y chromosome by in situ hybridization in combination with membrane antigens by two-color immunofluorescence. Lab Investig. 1994;64:623–8.
  Google Scholar
• Kruetzmann S, Rosado MM, Weber H, Germing U, Tournilhac O, Peter HH, et al. Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen. J Exp Med. 2003;197(7):939–45.
  Article PubMed CAS Google Scholar
• Smith JG, Liu X, Kaufhold RM, Clair J, Caulfield MJ. Development and validation of a gamma interferon ELISPOT assay for quantitation of cellular immune responses to varicella-zoster virus. Clin Diagn Lab Immunol. 2001;8(5):871–9.
  PubMed CAS Google Scholar
• Campbell MJ, Zelenetz AD, Levy S, Levy R. Use of family specific leader region primers for PCR amplification of the human heavy chain variable region gene repertoire. Mol Immunol. 1992;29(2):193–203.
  Article PubMed Google Scholar
• Shuttleworth J, Morser J, Burke DC. Expression of interferon-alpha and interferon-beta genes in human lymphoblastoid (Namalwa) cells. Eur J Biochem. 1983;133(2):399–404.
  Article PubMed CAS Google Scholar
• Tweeddale M, Lim B, Jamal N, Minden M, Messner HA. J Cell Biochem. 1985;117(Suppl 9A). Abstract.
• Moser BK, Stevens GR, Watts CL. The Two-sample T test versus Satterthwaite’s approximate F test. Commun Stat Theory Methods. 1989;18:3963–75.
  Article Google Scholar
• Bonferroni CE. Il Calcolo Delle Assicurazioni su Gruppi di Teste. Studi in Onore del Professore Salvatore Ortu Carboni. Rome, Italy: 1935. p. 13–60.
• Foy TM, Aruffo A, Bajorath J, Buhlmann JE, Noelle RJ. Immune regulation by CD40 and its ligand GP39. Annu Rev Immunol. 1996;14:591–617.
  Article PubMed CAS Google Scholar
• Taylor N, Candotti F, Smith S, Oakes SA, Jahn T, Isakov J, et al. Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency. J Biol Chem. 1997;272(11):7314–9.
  Article PubMed CAS Google Scholar
• Habib T, Senadheera S, Weinberg K, Kaushansky K. The common gamma chain (gamma c) is a required signaling component of the IL-21 receptor and supports IL-21-induced cell proliferation via JAK3. Biochemistry. 2002;41(27):8725–31.
  Article PubMed CAS Google Scholar
• Sarzotti M, Patel DD, Li X, Ozaki DA, Cao S, Langdon S, et al. T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation. J Immunol. 2003;170(5):2711–8.
  PubMed CAS Google Scholar
• Peschon J, Morrissey PJ, Grabstein KH, Ramsdell FJ, Marakowsky E, Gliniak BC, et al. Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice. J Exp Med. 1995;180:1955–60.
  Article Google Scholar
• Bhattacharya D, Rossi DJ, Bryder D, Weissman IL. Purified hematopoietic stem cell engraftment of rare niches corrects severe lymphoid deficiencies without host conditioning. J Exp Med. 2006;203(1):73–85.
  Article PubMed CAS Google Scholar
• Czechowicz A, Kraft D, Weissman IL, Bhattacharya D. Efficient transplantation via antibody-based clearance of hematopoietic stem cell niches. Science. 2007;318(5854):1296–9.
  Article PubMed CAS Google Scholar
• Prockop SE, Petrie HT. Functional assessment of alphaEbeta7/E-cadherin interactions in the steady state postnatal thymus. Clin Dev Immunol. 2004;11(2):135–41.
  Article PubMed CAS Google Scholar
• Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, de Saint-Basile G, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 cases. J Pediatr. 1993;123:564–72.
  Article PubMed CAS Google Scholar
• Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N Engl J Med. 2010;363(4):355–64.
  Article PubMed CAS Google Scholar
• Gaspar HB, Cooray S, Gilmour KC, Parsley KL, Adams S, Howe SJ, et al. Long-term persistence of a polyclonal T cell repertoire after gene therapy for x-linked severe combined immunodeficiency. Sci Transl Med. 2011;3(97):97ra79.
  Article PubMed Google Scholar
• Fumoux F, Guigou V, Blaise D, Maraninchi D, Fougereau M, Schiff C. Reconstitution of human immunoglobulin VH repertoire after bone marrow transplantation mimics B cell ontogeny. Blood. 1993;81:3153–7.
  PubMed CAS Google Scholar
• Minegishi Y, Okawa H, Sugamura K, Yata J. Preferential utilization of the immature JH segment and absence of somatic mutation in the CDR3 junction of the IgH chain gene in three X-linked severe combined immunodeficiency patients. Int Immunol. 1994;6:1709–15.
  Article PubMed CAS Google Scholar