Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening

Blood - Tập 117 Số 11 - Trang 3243-3246 - 2011
Lucinda Brown1, Jinhua Xu‐Bayford1, Zoe Allwood1, Mary Slatter2, Andrew J. Cant2, E. Graham Davies1, Paul Veys3, Andrew R. Gennery2, H. Bobby Gaspar4,1
1Department of Clinical Immunology, Great Ormond Street Hospital National Health Service Trust, London, United Kingdom;
2Department of Immunology and Bone Marrow Transplant, Newcastle General Hospital, Newcastle, United Kingdom;
3Department of Blood and Marrow Transplantation, Great Ormond Street Hospital National Health Service Trust, London, United Kingdom; and
4Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, United Kingdom

Tóm tắt

Abstract Severe combined immunodeficiency (SCID) carries a poor prognosis without definitive treatment by hematopoietic stem cell transplantation. The outcome for transplantation varies and is dependent on donor status and the condition of the child at the time of transplantation. Diagnosis at birth may allow for better protection of SCID babies from infection and improve transplantation outcome. In this comparative study conducted at the 2 designated SCID transplantation centers in the United Kingdom, we show that SCID babies diagnosed at birth because of a positive family history have a significantly improved outcome compared with the first presenting family member. The overall improved survival of more than 90% is related to a reduced rate of infection and significantly improved transplantation outcome irrespective of donor choice, conditioning regimen used, and underlying genetic diagnosis. Neonatal screening for SCID would significantly improve the outcome in this otherwise potentially devastating condition.

Từ khóa


Tài liệu tham khảo

Buckley, 2004, Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution., Annu Rev Immunol, 22, 625, 10.1146/annurev.immunol.22.012703.104614

Fischer, 2005, Severe combined immunodeficiency: a model disease for molecular immunology and therapy., Immunol Rev, 203, 98, 10.1111/j.0105-2896.2005.00223.x

Antoine, 2003, Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99., Lancet, 361, 553, 10.1016/S0140-6736(03)12513-5

Grunebaum, 2006, Bone marrow transplantation for severe combined immune deficiency., JAMA, 295, 508, 10.1001/jama.295.5.508

Hacein-Bey-Abina, 2010, Efficacy of gene therapy for X-linked severe combined immunodeficiency., N Engl J Med, 363, 355, 10.1056/NEJMoa1000164

Aiuti, 2009, Gene therapy for immunodeficiency due to adenosine deaminase deficiency., N Engl J Med, 360, 447, 10.1056/NEJMoa0805817

Gaspar, 2004, Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector., Lancet, 364, 2181, 10.1016/S0140-6736(04)17590-9

Gaspar, 2006, Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning., Mol Ther, 14, 505, 10.1016/j.ymthe.2006.06.007

Gaspar, 2009, How I treat ADA deficiency., Blood, 114, 3524, 10.1182/blood-2009-06-189209

Chan, 2005, Development of population-based newborn screening for severe combined immunodeficiency., J Allergy Clin Immunol, 115, 391, 10.1016/j.jaci.2004.10.012

Comeau, 2010, Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency., J Inherit Metab Dis, 33, S273, 10.1007/s10545-010-9103-9

Myers, 2002, Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival., Blood, 99, 872, 10.1182/blood.V99.3.872

Gennery, 2010, Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?, J Allergy Clin Immunol, 126, 602, 10.1016/j.jaci.2010.06.015

Thông tin
Thông tin xuất bản

Blood

Tập 117 Số 11

3243-3246

Thông tin tác giả