Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options....
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	de Pagter, Anne P. J. [verfasserIn] Bredius, Robbert G. M. [verfasserIn] Kuijpers, Taco W. [verfasserIn] Tramper, Jelco [verfasserIn] van der Burg, Mirjam [verfasserIn] van Montfrans, Joris [verfasserIn] Driessen, Gertjan J. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	Severe combined immunodeficiency Primary immunodeficiency Infection Viral Bacterial Stem cell transplantation

Übergeordnetes Werk:	Enthalten in: European journal of pediatrics - Berlin : Springer Science & Business Media B.V., 1975, 174(2015), 9 vom: 01. Apr., Seite 1183-1188
Übergeordnetes Werk:	volume:174 ; year:2015 ; number:9 ; day:01 ; month:04 ; pages:1183-1188

Links:	Volltext

DOI / URN:	10.1007/s00431-015-2518-4

Katalog-ID:	SPR005802857

Internformat


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245	1	0	\|a Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
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520			\|a Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands.
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650		4	\|a Stem cell transplantation \|7 (dpeaa)DE-He213
700	1		\|a Bredius, Robbert G. M. \|e verfasserin \|4 aut
700	1		\|a Kuijpers, Taco W. \|e verfasserin \|4 aut
700	1		\|a Tramper, Jelco \|e verfasserin \|4 aut
700	1		\|a van der Burg, Mirjam \|e verfasserin \|4 aut
700	1		\|a van Montfrans, Joris \|e verfasserin \|4 aut
700	1		\|a Driessen, Gertjan J. \|e verfasserin \|4 aut
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912			\|a GBV_ILN_74
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912			\|a GBV_ILN_213
912			\|a GBV_ILN_224
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912			\|a GBV_ILN_250
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publishDate	2015
allfields	10.1007/s00431-015-2518-4 doi (DE-627)SPR005802857 (SPR)s00431-015-2518-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl de Pagter, Anne P. J. verfasserin aut Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands. Severe combined immunodeficiency (dpeaa)DE-He213 Primary immunodeficiency (dpeaa)DE-He213 Infection (dpeaa)DE-He213 Viral (dpeaa)DE-He213 Bacterial (dpeaa)DE-He213 Stem cell transplantation (dpeaa)DE-He213 Bredius, Robbert G. M. verfasserin aut Kuijpers, Taco W. verfasserin aut Tramper, Jelco verfasserin aut van der Burg, Mirjam verfasserin aut van Montfrans, Joris verfasserin aut Driessen, Gertjan J. verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 174(2015), 9 vom: 01. Apr., Seite 1183-1188 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:174 year:2015 number:9 day:01 month:04 pages:1183-1188 https://dx.doi.org/10.1007/s00431-015-2518-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 174 2015 9 01 04 1183-1188
spelling	10.1007/s00431-015-2518-4 doi (DE-627)SPR005802857 (SPR)s00431-015-2518-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl de Pagter, Anne P. J. verfasserin aut Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands. Severe combined immunodeficiency (dpeaa)DE-He213 Primary immunodeficiency (dpeaa)DE-He213 Infection (dpeaa)DE-He213 Viral (dpeaa)DE-He213 Bacterial (dpeaa)DE-He213 Stem cell transplantation (dpeaa)DE-He213 Bredius, Robbert G. M. verfasserin aut Kuijpers, Taco W. verfasserin aut Tramper, Jelco verfasserin aut van der Burg, Mirjam verfasserin aut van Montfrans, Joris verfasserin aut Driessen, Gertjan J. verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 174(2015), 9 vom: 01. Apr., Seite 1183-1188 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:174 year:2015 number:9 day:01 month:04 pages:1183-1188 https://dx.doi.org/10.1007/s00431-015-2518-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 174 2015 9 01 04 1183-1188
allfields_unstemmed	10.1007/s00431-015-2518-4 doi (DE-627)SPR005802857 (SPR)s00431-015-2518-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl de Pagter, Anne P. J. verfasserin aut Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands. Severe combined immunodeficiency (dpeaa)DE-He213 Primary immunodeficiency (dpeaa)DE-He213 Infection (dpeaa)DE-He213 Viral (dpeaa)DE-He213 Bacterial (dpeaa)DE-He213 Stem cell transplantation (dpeaa)DE-He213 Bredius, Robbert G. M. verfasserin aut Kuijpers, Taco W. verfasserin aut Tramper, Jelco verfasserin aut van der Burg, Mirjam verfasserin aut van Montfrans, Joris verfasserin aut Driessen, Gertjan J. verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 174(2015), 9 vom: 01. Apr., Seite 1183-1188 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:174 year:2015 number:9 day:01 month:04 pages:1183-1188 https://dx.doi.org/10.1007/s00431-015-2518-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 174 2015 9 01 04 1183-1188
allfieldsGer	10.1007/s00431-015-2518-4 doi (DE-627)SPR005802857 (SPR)s00431-015-2518-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl de Pagter, Anne P. J. verfasserin aut Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands. Severe combined immunodeficiency (dpeaa)DE-He213 Primary immunodeficiency (dpeaa)DE-He213 Infection (dpeaa)DE-He213 Viral (dpeaa)DE-He213 Bacterial (dpeaa)DE-He213 Stem cell transplantation (dpeaa)DE-He213 Bredius, Robbert G. M. verfasserin aut Kuijpers, Taco W. verfasserin aut Tramper, Jelco verfasserin aut van der Burg, Mirjam verfasserin aut van Montfrans, Joris verfasserin aut Driessen, Gertjan J. verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 174(2015), 9 vom: 01. Apr., Seite 1183-1188 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:174 year:2015 number:9 day:01 month:04 pages:1183-1188 https://dx.doi.org/10.1007/s00431-015-2518-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 174 2015 9 01 04 1183-1188
allfieldsSound	10.1007/s00431-015-2518-4 doi (DE-627)SPR005802857 (SPR)s00431-015-2518-4-e DE-627 ger DE-627 rakwb eng 610 ASE 44.67 bkl de Pagter, Anne P. J. verfasserin aut Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands. Severe combined immunodeficiency (dpeaa)DE-He213 Primary immunodeficiency (dpeaa)DE-He213 Infection (dpeaa)DE-He213 Viral (dpeaa)DE-He213 Bacterial (dpeaa)DE-He213 Stem cell transplantation (dpeaa)DE-He213 Bredius, Robbert G. M. verfasserin aut Kuijpers, Taco W. verfasserin aut Tramper, Jelco verfasserin aut van der Burg, Mirjam verfasserin aut van Montfrans, Joris verfasserin aut Driessen, Gertjan J. verfasserin aut Enthalten in European journal of pediatrics Berlin : Springer Science & Business Media B.V., 1975 174(2015), 9 vom: 01. Apr., Seite 1183-1188 (DE-627)684135361 (DE-600)2647723-3 1432-1076 nnns volume:174 year:2015 number:9 day:01 month:04 pages:1183-1188 https://dx.doi.org/10.1007/s00431-015-2518-4 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.67 ASE AR 174 2015 9 01 04 1183-1188
language	English
source	Enthalten in European journal of pediatrics 174(2015), 9 vom: 01. Apr., Seite 1183-1188 volume:174 year:2015 number:9 day:01 month:04 pages:1183-1188
sourceStr	Enthalten in European journal of pediatrics 174(2015), 9 vom: 01. Apr., Seite 1183-1188 volume:174 year:2015 number:9 day:01 month:04 pages:1183-1188
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Severe combined immunodeficiency Primary immunodeficiency Infection Viral Bacterial Stem cell transplantation
dewey-raw	610
isfreeaccess_bool	true
container_title	European journal of pediatrics
authorswithroles_txt_mv	de Pagter, Anne P. J. @@aut@@ Bredius, Robbert G. M. @@aut@@ Kuijpers, Taco W. @@aut@@ Tramper, Jelco @@aut@@ van der Burg, Mirjam @@aut@@ van Montfrans, Joris @@aut@@ Driessen, Gertjan J. @@aut@@
publishDateDaySort_date	2015-04-01T00:00:00Z
hierarchy_top_id	684135361
dewey-sort	3610
id	SPR005802857
language_de	englisch
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author	de Pagter, Anne P. J.
spellingShingle	de Pagter, Anne P. J. ddc 610 bkl 44.67 misc Severe combined immunodeficiency misc Primary immunodeficiency misc Infection misc Viral misc Bacterial misc Stem cell transplantation Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
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topic_title	610 ASE 44.67 bkl Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening Severe combined immunodeficiency (dpeaa)DE-He213 Primary immunodeficiency (dpeaa)DE-He213 Infection (dpeaa)DE-He213 Viral (dpeaa)DE-He213 Bacterial (dpeaa)DE-He213 Stem cell transplantation (dpeaa)DE-He213
topic	ddc 610 bkl 44.67 misc Severe combined immunodeficiency misc Primary immunodeficiency misc Infection misc Viral misc Bacterial misc Stem cell transplantation
topic_unstemmed	ddc 610 bkl 44.67 misc Severe combined immunodeficiency misc Primary immunodeficiency misc Infection misc Viral misc Bacterial misc Stem cell transplantation
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title	Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
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title_full	Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
author_sort	de Pagter, Anne P. J.
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author_browse	de Pagter, Anne P. J. Bredius, Robbert G. M. Kuijpers, Taco W. Tramper, Jelco van der Burg, Mirjam van Montfrans, Joris Driessen, Gertjan J.
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title_sort	overview of 15-year severe combined immunodeficiency in the netherlands: towards newborn blood spot screening
title_auth	Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
abstract	Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands.
abstractGer	Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands.
abstract_unstemmed	Abstract Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998–2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0–1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. Conclusion: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients.“What is known”• SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time.• Newborn screening for SCID enables early diagnosis in the asymptomatic phase.“What is new”• Nine out of 43 SCID patients in the Netherlandsdied due to severe infectious complications before curative treatment could be initiated.• Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands.
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container_issue	9
title_short	Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
url	https://dx.doi.org/10.1007/s00431-015-2518-4
remote_bool	true
author2	Bredius, Robbert G. M. Kuijpers, Taco W. Tramper, Jelco van der Burg, Mirjam van Montfrans, Joris Driessen, Gertjan J.
author2Str	Bredius, Robbert G. M. Kuijpers, Taco W. Tramper, Jelco van der Burg, Mirjam van Montfrans, Joris Driessen, Gertjan J.
ppnlink	684135361
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isOA_txt	true
hochschulschrift_bool	false
doi_str	10.1007/s00431-015-2518-4
up_date	2024-07-03T18:48:00.104Z
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Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening

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