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

被引：175

作者：

Brown, Lucinda ^{[2
]}

Xu-Bayford, Jinhua ^{[2
]}

Allwood, Zoe ^{[2
]}

Slatter, Mary ^{[3
]}

Cant, Andrew ^{[3
]}

Davies, E. Graham ^{[2
]}

Veys, Paul ^{[4
]}

Gennery, Andrew R. ^{[3
]}

Gaspar, H. Bobby ^{[1
,2
]}

机构：

[1] UCL Inst Child Hlth, Mol Immunol Unit, Ctr Immunodeficiency, London WC1N 1EH, England

[2] Great Ormond St Hosp Natl Hlth Serv Trust, Dept Clin Immunol, London, England

[3] Newcastle Gen Hosp, Dept Immunol & Bone Marrow Transplant, Newcastle Upon Tyne NE4 6BE, Tyne & Wear, England

[4] Great Ormond St Hosp Natl Hlth Serv Trust, Dept Blood & Marrow Transplantat, London, England

来源：

BLOOD | 2011年 / 117卷 / 11期

关键词：

GENE-THERAPY; TRANSPLANTATION; RECONSTITUTION; DEFICIENCY;

D O I：

10.1182/blood-2010-08-300384

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

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. (Blood. 2011; 117(11): 3243-3246)

引用

页码：3243 / 3246

页数：4

共 13 条

[1]

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency. [J].

Aiuti, Alessandro ;

Cattaneo, Federica ;

Galimberti, Stefania ;

Benninghoff, Ulrike ;

Cassani, Barbara ;

Callegaro, Luciano ;

Scaramuzza, Samantha ;

Andolfi, Grazia ;

Mirolo, Massimiliano ;

Brigida, Immacolata ;

Tabucchi, Antonella ;

Carlucci, Filippo ;

Eibl, Martha ;

Aker, Memet ;

Slavin, Shimon ;

Al-Mousa, Hamoud ;

Al Ghonaium, Abdulaziz ;

Ferster, Alina ;

Duppenthaler, Andrea ;

Notarangelo, Luigi ;

Wintergerst, Uwe ;

Buckley, Rebecca H. ;

Bregni, Marco ;

Marktel, Sarah ;

Valsecchi, Maria Grazia ;

Rossi, Paolo ;

Ciceri, Fabio ;

Miniero, Roberto ;

Bordignon, Claudio ;

Roncarolo, Maria-Grazia .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (05) :447-458

[2]

Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies:: report of the European experience 1968-99 [J].

Antoine, C ;

Müller, 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 .

LANCET, 2003, 361 (9357) :553-560

[3]

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution [J].

Buckley, RH .

ANNUAL REVIEW OF IMMUNOLOGY, 2004, 22 :625-655

[4]

Development of population-based newborn screening for severe combined immunodeficiency [J].

Chan, K ;

Puck, JM .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2005, 115 (02) :391-398

[5]

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency [J].

Comeau, Anne Marie ;

Hale, Jaime E. ;

Pai, Sung-Yun ;

Bonilla, Francisco A. ;

Notarangelo, Luigi D. ;

Pasternack, Mark S. ;

Meissner, H. Cody ;

Cooper, Ellen Rae ;

DeMaria, Alfred ;

Sahai, Inderneel ;

Eaton, Roger B. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 :S273-S281

[6]

Severe combined immunodeficiency.: A model disease for molecular immunology and therapy [J].

Fischer, A ;

Le Deist, F ;

Hacein-Bey-Abina, S ;

André-Schmutz, I ;

Basile, GD ;

de Villartay, JP ;

Cavazzana-Calvo, M .

IMMUNOLOGICAL REVIEWS, 2005, 203 :98-109

[7]

Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning [J].

Gaspar, H. Bobby ;

Bjorkegren, Emma ;

Parsley, Kate ;

Gilmour, Kimberly C. ;

King, Doug ;

Sinclair, Joanna ;

Zhang, Fang ;

Giannakopoulos, Aris ;

Adams, Stuart ;

Fairbanks, Lynette D. ;

Gaspar, Jane ;

Henderson, Lesley ;

Xu-Bayford, Jin Hua ;

Davies, E. Graham ;

Veys, Paul A. ;

Kinnon, Christine ;

Thrasher, Adrian J. .

MOLECULAR THERAPY, 2006, 14 (04) :505-513

[8]

How I treat ADA deficiency [J].

Gaspar, H. Bobby ;

Aiuti, Alessandro ;

Porta, Fulvio ;

Candotti, Fabio ;

Hershfield, Michael S. ;

Notarangelo, Luigi D. .

BLOOD, 2009, 114 (17) :3524-3532

[9]

Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector [J].

Gaspar, HB ;

Parsley, KL ;

Howe, S ;

King, D ;

Gilmour, KC ;

Sinclair, J ;

Brouns, G ;

Schmidt, M ;

Von Kalle, C ;

Barington, T ;

Jakobsen, MA ;

Christensen, HO ;

Al Ghonaium, A ;

White, HN ;

Smith, JL ;

Levinsky, RJ ;

Ali, RR ;

Kinnon, C ;

Thrasher, AJ .

LANCET, 2004, 364 (9452) :2181-2187

[10]

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better? [J].

Gennery, Andrew R. ;

Slatter, Mary A. ;

Grandin, Laure ;

Taupin, Pierre ;

Cant, Andrew J. ;

Veys, Paul ;

Amrolia, Persis J. ;

Gaspar, H. Bobby ;

Davies, E. Graham ;

Friedrich, Wilhelm ;

Hoenig, Manfred ;

Notarangelo, Luigi D. ;

Mazzolari, Evelina ;

Porta, Fulvio ;

Bredius, Robbert G. M. ;

Lankester, Arjen C. ;

Wulffraat, Nico M. ;

Seger, Reinhard ;

Guengoer, Tayfun ;

Fasth, Anders ;

Sedlacek, Petr ;

Neven, Benedicte ;

Blanche, Stephane ;

Fischer, Alain ;

Cavazzana-Calvo, Marina ;

Landais, Paul .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2010, 126 (03) :602-U342

← 1 2 →