EVIDENCE REVIEW:  Severe Combined Immunodeficiency (SCID)

IX. REFERENCES

"Primary immunodeficiency diseases. Report of a WHO Scientific Group", 1995, Clinical and Experimental Immunology, vol. 99 Suppl 1, pp. 1-24.

Severe Combined Immunodeficiency [Homepage of U.S. National Library of Medicine and the National Institutes of Health], [Online]. Available: http://www.ncbi.nlm.nih.gov/sites/entrez?Db=mesh&Cmd=ShowDetailView&TermToSearch=68016511&ordinalpos=2&itool=EntrezSystem2.PEntrez.Mesh.Mesh_ResultsPanel.Mesh_RVDocSum [2008, October] .

Albuquerque, W. & Gaspar, H.B. 2004, "Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency", The Journal of Pediatrics, vol. 144, no. 2, pp. 278-280.

Amrolia, P., Gaspar, H.B., Hassan, A., Webb, D., Jones, A., Sturt, N., Mieli-Vergani, G., Pagliuca, A., Mufti, G., Hadzic, N., Davies, G. & Veys, P. 2000, "Nonmyeloablative stem cell transplantation for congenital immunodeficiencies", Blood, vol. 96, no. 4, pp. 1239-1246.

Antoine, C., Muller, S., Cant, A., Cavazzana-Calvo, M., Veys, P., Vossen, J., Fasth, A., Heilmann, C., Wulffraat, N., Seger, R., Blanche, S., Friedrich, W., Abinun, M., Davies, G., Bredius, R., Schulz, A., Landais, P., Fischer, A., European Group for Blood and Marrow Transplantation & European Society for Immunodeficiency 2003, "Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99", Lancet, vol. 361, no. 9357, pp. 553-560.

Arpaci, F., Tezcan, I., Kuzhan, O., Yalman, N., Uckan, D., Kurekci, A.E., Ikinciogullari, A., Ozet, A. & Tanyeli, A. 2008, "G-CSF-mobilized haplo-identical peripheral blood stem cell transplantation in children with poor prognostic nonmalignant disorders", American Journal of Hematology, vol. 83, no. 2, pp. 133-136.

Bertrand, Y., Landais, P., Friedrich, W., Gerritsen, B., Morgan, G., Fasth, A., Cavazzana-Calvo, M., Porta, F., Cant, A., Espanol, T., Muller, S., Veys, P., Vossen, J., Haddad, E. & Fischer, A. 1999, "Influence of severe combined immunodeficiency phenotype on the outcome of HLA- non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the European society for immunodeficiency", The Journal of Pediatrics, vol. 134, no. 6, pp. 740-748.

Bertrand, Y., Muller, S.M., Casanova, J.L., Morgan, G., Fischer, A. & Friedrich, W. 2002, "Reticular dysgenesis: HLA- non-identical bone marrow transplants in a series of 10 patients", Bone Marrow Transplantation, vol. 29, no. 9, pp. 759-762.

Boeck, A., Buckley, R.H. & Schiff, R.I. 1997, "Gastroesophageal reflux and severe combined immunodeficiency", The Journal of Allergy and Clinical Immunology, vol. 99, no. 3, pp. 420-424.

Borghans, J.A., Bredius, R.G., Hazenberg, M.D., Roelofs, H., Jol-van der Zijde, E.C., Heidt, J., Otto, S.A., Kuijpers, T.W., Fibbe, W.E., Vossen, J.M., Miedema, F. & van Tol, M.J. 2006, "Early determinants of long-term T-cell reconstitution after hematopoietic stem cell transplantation for severe combined immunodeficiency", Blood, vol. 108, no. 2, pp. 763-769.

Boyle, J.M. & Buckley, R.H. 2007, "Population prevalence of diagnosed primary immunodeficiency diseases in the United States", Journal of Clinical Immunology, vol. 27, no. 5, pp. 497-502.

Brugnoni, D., Airo, P., Malagoli, A., Cattaneo, R., Pennacchio, M. & Porta, F. 1998, "Rapid regeneration of normally functional naive CD4(+) T-cells after bone marrow transplantation from unrelated donors for combined immunodeficiency", Blood, vol. 92, no. 9, pp. 3484-3486.

Buckley, R.H., Schiff, R.I., Schiff, S.E., Markert, M.L., Williams, L.W., Harville, T.O., Roberts, J.L. & Puck, J.M. 1997, "Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants", The Journal of Pediatrics, vol. 130, no. 3, pp. 378-387.

Buckley, R.H., Schiff, S.E., Schiff, R.I., Markert, L., Williams, L.W., Roberts, J.L., Myers, L.A. & Ward, F.E. 1999, "Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency", The New England Journal of Medicine, vol. 340, no. 7, pp. 508-516.

Cavazzana-Calvo, M., Carlier, F., Le Deist, F., Morillon, E., Taupin, P., Gautier, D., Radford-Weiss, I., Caillat-Zucman, S., Neven, B., Blanche, S., Cheynier, R., Fischer, A. & Hacein-Bey-Abina, S. 2007, "Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype", Blood, vol. 109, no. 10, pp. 4575-4581.

Chan, B., Wara, D., Bastian, J., Hershfield, M.S., Bohnsack, J., Azen, C.G., Parkman, R., Weinberg, K. & Kohn, D.B. 2005, "Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID)", Clinical Immunology (Orlando, Fla.), vol. 117, no. 2, pp. 133-143.

Chan, K. & Puck, J.M. 2005, "Development of population-based newborn screening for severe combined immunodeficiency", The Journal of Allergy and Clinical Immunology, vol. 115, no. 2, pp. 391-398.

Dalal, I., Reid, B., Doyle, J., Freedman, M., Calderwood, S., Saunders, F. & Roifman, C.M. 2000, "Matched unrelated bone marrow transplantation for combined immunodeficiency", Bone Marrow Transplantation, vol. 25, no. 6, pp. 613-621.

Dal-Cortivo, L., Ouachee-Chardin, M., Hirsch, I., Blanche, S., Fischer, A., Cavazzana-Calvo, M. & Caillat-Zucman, S. 2004, "Does haplo-identical transplantation in children with primary immunodeficiencies have the potential to exploit donor NK-cell alloreactivity?", Bone Marrow Transplantation, vol. 34, no. 11, pp. 945-947.

Deerojanawong, J., Chang, A.B., Eng, P.A., Robertson, C.F. & Kemp, A.S. 1997, "Pulmonary diseases in children with severe combined immune deficiency and DiGeorge syndrome", Pediatric Pulmonology, vol. 24, no. 5, pp. 324-330.

Denianke, K.S., Frieden, I.J., Cowan, M.J., Williams, M.L. & McCalmont, T.H. 2001, "Cutaneous manifestations of maternal engraftment in patients with severe combined immunodeficiency: a clinicopathologic study", Bone Marrow Transplantation, vol. 28, no. 3, pp. 227-233.

Diaz de Heredia, C., Ortega, J.J., Diaz, M.A., Olive, T., Badell, I., Gonzalez-Vicent, M. & Sanchez de Toledo, J. 2008, "Unrelated cord blood transplantation for severe combined immunodeficiency and other primary immunodeficiencies", Bone Marrow Transplantation, vol. 41, no. 7, pp. 627-633.

Dror, Y., Gallagher, R., Wara, D.W., Colombe, B.W., Merino, A., Benkerrou, M. & Cowan, M.J. 1993, "Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T-cell-depleted haplocompatible bone marrow transplantation", Blood, vol. 81, no. 8, pp. 2021-2030.

Fischer, A., Landais, P., Friedrich, W., Morgan, G., Gerritsen, B., Fasth, A., Porta, F., Griscelli, C., Goldman, S.F. & Levinsky, R. 1990, "European experience of bone-marrow transplantation for severe combined immunodeficiency", Lancet, vol. 336, no. 8719, pp. 850-854.

Friedrich, W., Honig, M. & Muller, S.M. 2007, "Long-term follow-up in patients with severe combined immunodeficiency treated by bone marrow transplantation", Immunologic Research, vol. 38, no. 1-3, pp. 165-173.

Gennery, A.R., Dickinson, A.M., Brigham, K., Barge, D., Spickett, G.P., Curtis, A., Spencer, V., Jackson, A., Cavanagh, G., Carter, V., Palmer, P., Flood, T.J., Cant, A.J. & Abinun, M. 2001, "CAMPATH-1M T-cell depleted BMT for SCID: long-term follow-up of 19 children treated 1987-98 in a single center", Cytotherapy, vol. 3, no. 3, pp. 221-232.

Giri, N., Vowels, M., Ziegler, J.B., Ford, D. & Lam-Po-Tang, R. 1994, "HLA- non-identical T-cell-depleted bone marrow transplantation for primary immunodeficiency diseases", Australian and New Zealand Journal of Medicine, vol. 24, no. 1, pp. 26-30.

Gomez, L., Le Deist, F., Blanche, S., Cavazzana-Calvo, M., Griscelli, C. & Fischer, A. 1995, "Treatment of Omenn syndrome by bone marrow transplantation", The Journal of Pediatrics, vol. 127, no. 1, pp. 76-81.

Grunebaum, E., Mazzolari, E., Porta, F., Dallera, D., Atkinson, A., Reid, B., Notarangelo, L.D. & Roifman, C.M. 2006, "Bone marrow transplantation for severe combined immune deficiency", JAMA : The Journal of the American Medical Association, vol. 295, no. 5, pp. 508-518.

Hacein-Bey-Abina, S., Garrigue, A., Wang, G.P., Soulier, J., Lim, A., Morillon, E., Clappier, E., Caccavelli, L., Delabesse, E., Beldjord, K., Asnafi, V., MacIntyre, E., Dal Cortivo, L., Radford, I., Brousse, N.,Sigaux, F., Moshous, D., Hauer, J., Borkhardt, A., Belohradsky, B.H., Wintergerst, U., Velez, M.C., Leiva, L., Sorensen, R., Wulffraat, N., Blanche, S., Bushman, F.D., Fischer, A. & Cavazzana-Calvo, M. 2008, "Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1", The Journal of Clinical Investigation, vol. 118, no. 9, pp. 3132-3142.

Hacein-Bey-Abina, S., Le Deist, F., Carlier, F., Bouneaud, C., Hue, C., De Villartay, J.P., Thrasher, A.J., Wulffraat, N., Sorensen, R., Dupuis-Girod, S., Fischer, A., Davies, E.G., Kuis, W., Leiva, L. & Cavazzana-Calvo, M. 2002, "Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy", The New England Journal of Medicine, vol. 346, no. 16, pp. 1185-1193.

Haddad, E., Landais, P., Friedrich, W., Gerritsen, B., Cavazzana-Calvo, M., Morgan, G., Bertrand, Y., Fasth, A., Porta, F., Cant, A., Espanol, T., Muller, S., Veys, P., Vossen, J. & Fischer, A. 1998, "Long-term immune reconstitution and outcome after HLA-non-identical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients", Blood, vol. 91, no. 10, pp. 3646-3653.

Hague, R.A., Rassam, S., Morgan, G. & Cant, A.J. 1994, "Early diagnosis of severe combined immunodeficiency syndrome", Archives of Disease in Childhood, vol. 70, no. 4, pp. 260-263.

Hennewig, U., Schulz, A., Adams, O., Friedrich, W., Gobel, U. & Niehues, T. 2007, "Severe combined immunodeficiency signalized by eosinophilia and lymphopenia in rotavirus infected infants", Klinische Padiatrie, vol. 219, no. 6, pp. 343-347.

Honig, M., Albert, M.H., Schulz, A., Sparber-Sauer, M., Schutz, C., Belohradsky, B., Gungor, T., Rojewski, M.T., Bode, H., Pannicke, U., Lippold, D., Schwarz, K., Debatin, K.M., Hershfield, M.S. & Friedrich, W. 2007, "Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications", Blood, vol. 109, no. 8, pp. 3595-3602.

Horn, B., Viele, M., Mentzer, W., Mogck, N., DeSantes, K. & Cowan, M. 1999, "Autoimmune hemolytic anemia in patients with SCID after T-cell-depleted BM and PBSC transplantation", Bone Marrow Transplantation, vol. 24, no. 9, pp. 1009-1013.

Jones, J.F., Ritenbaugh, C.K., Spence, M.A. & Hayward, A. 1991, "Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics", Human Biology; an International Record of Research, vol. 63, no. 5, pp. 669-682.

Kane, L., Gennery, A.R., Crooks, B.N., Flood, T.J., Abinun, M. & Cant, A.J. 2001, "Neonatal bone marrow transplantation for severe combined immunodeficiency", Archives of Disease in Childhood.Fetal and Neonatal Edition, vol. 85, no. 2, pp. F110-3.

Kline, R.M., Stiehm, E.R. & Cowan, M.J. 1996, "Bone marrow 'boosts' following T-cell-depleted haplo-identical bone marrow transplantation", Bone Marrow Transplantation, vol. 17, no. 4, pp. 543-548.

Knutsen, A.P. & Wall, D.A. 2000, "Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience", Journal of Clinical Immunology, vol. 20, no. 6, pp. 466-476.

Laffort, C., Le Deist, F., Favre, M., Caillat-Zucman, S., Radford-Weiss, I., Debre, M., Fraitag, S., Blanche, S., Cavazzana-Calvo, M., de Saint Basile, G., de Villartay, J.P., Giliani, S., Orth, G., Casanova, J.L., Bodemer, C. & Fischer, A. 2004, "Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency", Lancet, vol. 363, no. 9426, pp. 2051-2054.

Mazzolari, E., Forino, C., Guerci, S., Imberti, L., Lanfranchi, A., Porta, F. & Notarangelo, L.D. 2007, "Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency", The Journal of Allergy and Clinical Immunology, vol. 120, no. 4, pp. 892-899.

McGhee, S.A., Stiehm, E.R., Cowan, M., Krogstad, P. & McCabe, E.R. 2005, "Two-tiered universal newborn screening strategy for severe combined immunodeficiency", Molecular Genetics and Metabolism, vol. 86, no. 4, pp. 427-430.

McGhee, S.A., Stiehm, E.R. & McCabe, E.R. 2005, "Potential costs and benefits of newborn screening for severe combined immunodeficiency", The Journal of Pediatrics, vol. 147, no. 5, pp. 603-608.

Monafo, W.J., Polmar, S.H., Neudorf, S., Mather, A. & Filipovich, A.H. 1992, "A hereditary immunodeficiency characterized by CD8+ T lymphocyte deficiency and impaired lymphocyte activation", Clinical and Experimental Immunology, vol. 90, no. 3, pp. 390-393.

Myers, L.A., Patel, D.D., Puck, J.M. & Buckley, R.H. 2002, "Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival", Blood, vol. 99, no. 3, pp. 872-878.

NHS Centre for Reviews and Dissemination March 2001, Accessed: October 17, 2008, Undertaking Systematic Reviews of Research on Effectiveness: CRD's Guidance for Those Carrying Out or Commissioning Reviews.

O'Marcaigh, A.S., DeSantes, K., Hu, D., Pabst, H., Horn, B., Li, L. & Cowan, M.J. 2001, "Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans", Bone Marrow Transplantation, vol. 27, no. 7, pp. 703-709.

Patel, D.D., Gooding, M.E., Parrott, R.E., Curtis, K.M., Haynes, B.F. & Buckley, R.H. 2000, "Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency", The New England Journal of Medicine, vol. 342, no. 18, pp. 1325-1332.

Pandor, A., Eastham, J., Beverley, C., Chilcott, J. & Paisley, S. 2004, "Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review", Health Technology Assessment (Winchester, England), vol. 8, no. 12, pp. iii, 1-121.

Patel, D.D., Gooding, M.E., Parrott, R.E., Curtis, K.M., Haynes, B.F. & Buckley, R.H. 2000, "Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency", The New England Journal of Medicine, vol. 342, no. 18, pp. 1325-1332.

Pollitt, R.J., Green, A., McCabe, C.J., Booth, A., Cooper, N.J., Leonard, J.V., Nicholl, J., Nicholson, P., Tunaley, J.R. & Virdi, N.K. 1997, "Neonatal screening for inborn errors of metabolism: cost, yield and outcome", Health Technology Assessment (Winchester, England), vol. 1, no. 7, pp. i-iv, 1-202.

Puck, J.M. 2007, "Severe combined immunodeficiency: new advances in diagnosis and treatment", Immunologic Research, vol. 38, no. 1-3, pp. 64-67.

Puck, J.M. & SCID Newborn Screening Working Group 2007, "Population-based newborn screening for severe combined immunodeficiency: steps toward implementation", The Journal of Allergy and Clinical Immunology, vol. 120, no. 4, pp. 760-768.

Rao, K., Amrolia, P.J., Jones, A., Cale, C.M., Naik, P., King, D., Davies, G.E., Gaspar, H.B. & Veys, P.A. 2005, "Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen", Blood, vol. 105, no. 2, pp. 879-885.

Rao, K., Amrolia, P.J., Jones, A., Cale, C.M., Naik, P., King, D., Davies, G.E., Gaspar, H.B. & Veys, P.A. 2005, "Improved survival after unrelated donor bone marrow transplantation in children with primary immunodeficiency using a reduced-intensity conditioning regimen", Blood, vol. 105, no. 2, pp. 879-885.

Roberts, J.L., Lengi, A., Brown, S.M., Chen, M., Zhou, Y.J., O'Shea, J.J. & Buckley, R.H. 2004, "Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation", Blood, vol. 103, no. 6, pp. 2009-2018.

Schmidt, M., Hacein-Bey-Abina, S., Wissler, M., Carlier, F., Lim, A., Prinz, C., Glimm, H., Andre-Schmutz, I., Hue, C., Garrigue, A., Le Deist, F., Lagresle, C., Fischer, A., Cavazzana-Calvo, M. & von Kalle, C. 2005, "Clonal evidence for the transduction of CD34+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial", Blood, vol. 105, no. 7, pp. 2699-2706.

Slatter, M.A., Brigham, K., Dickinson, A.M., Harvey, H.L., Barge, D., Jackson, A., Bown, N., Flood, T.J., Cant, A.J., Abinun, M. & Gennery, A.R. 2008, "Long-term immune reconstitution after anti-CD52-treated or anti-CD34-treated hematopoietic stem cell transplantation for severe T-lymphocyte immunodeficiency", The Journal of Allergy and Clinical Immunology, vol. 121, no. 2, pp. 361-367.

Smogorzewska, E.M., Brooks, J., Annett, G., Kapoor, N., Crooks, G.M., Kohn, D.B., Parkman, R. & Weinberg, K.I. 2000, "T-cell depleted haplo-identical bone marrow transplantation for the treatment of children with severe combined immunodeficiency", Archivum Immunologiae et Therapiae Experimentalis, vol. 48, no. 2, pp. 111-118.

Stephan, J.L., Vlekova, V., Le Deist, F., Blanche, S., Donadieu, J., De Saint-Basile, G., Durandy, A., Griscelli, C. & Fischer, A. 1993, "Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients", The Journal of Pediatrics, vol. 123, no. 4, pp. 564-572.

Stocks, R.M., Thompson, J.W., Church, J.A., Kun, S. & Simms, E. 1999, "Severe combined immunodeficiency: otolaryngological presentation and management", The Annals of Otology, Rhinology, and Laryngology, vol. 108, no. 4, pp. 403-407.

Touraine, J.L., Plotnicky, H., Roncarolo, M.G., Bacchetta, R. & Gebuhrer, L. 2007, "Immunological lessons learnt from patients transplanted with fully mismatched stem cells", Immunologic Research, vol. 38, no. 1-3, pp. 201-209.

van Leeuwen, J.E., van Tol, M.J., Joosten, A.M., Schellekens, P.T., van den Bergh, R.L., Waaijer, J.L., Oudeman-Gruber, N.J., van der Weijden-Ragas, C.P., Roos, M.T. & Gerritsen, E.J. 1994, "Relationship between patterns of engraftment in peripheral blood and immune reconstitution after allogeneic bone marrow transplantation for (severe) combined immunodeficiency", Blood, vol. 84, no. 11, pp. 3936-3947.

Veys, P., Rao, K. & Amrolia, P. 2005, "Stem cell transplantation for congenital immunodeficiencies using reduced-intensity conditioning", Bone Marrow Transplantation, vol. 35 Suppl 1, pp. S45-7.

Vossen, J.M., van Leeuwen, J.E., van Tol, M.J., Joosten, A.M., van den Berg, H., Gerritsen, E.J., Haraldsson, A. & Khan, P.M. 1993, "Chimerism and immune reconstitution following allogeneic bone marrow transplantation for severe combined immunodeficiency disease", Immunodeficiency, vol. 4, no. 1-4, pp. 311-313.

Waruiru, C., Slatter, M.A., Taylor, C., Ramesh, V., Flood, T.J., Abinun, M., Cant, A.J. & Gennery, A.R. 2007, "Outcome of hematopoietic stem cell transplantation in severe combined immune deficiency with central nervous system viral infection", The Pediatric Infectious Disease Journal, vol. 26, no. 2, pp. 129-133.

Next page: Appendix A SCID Evidence Tables