Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years
Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Aksentijevich, Ivona [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2015 |
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| Schlagwörter: |
Next generation sequencing (NGS) STING-associated vasculopathy with onset in infancy (SAVI) |
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| Anmerkung: |
© Springer-Verlag (outside the USA) 2015 |
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| Übergeordnetes Werk: |
Enthalten in: Springer Seminars in immunopathology - Berlin : Springer, 1978, 37(2015), 4 vom: 10. Apr., Seite 395-401 |
|---|---|
| Übergeordnetes Werk: |
volume:37 ; year:2015 ; number:4 ; day:10 ; month:04 ; pages:395-401 |
| Links: |
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| DOI / URN: |
10.1007/s00281-015-0478-4 |
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| 520 | |a Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. | ||
| 650 | 4 | |a Autoinflammation |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Next generation sequencing (NGS) |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Deficiency of ADA2 (DADA2) |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a STING-associated vasculopathy with onset in infancy (SAVI) |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a NLRC4-associated inflammatory diseases |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a TRNT1 deficiency/SIFD |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a LACC1-associated monogenic disease |7 (dpeaa)DE-He213 | |
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10.1007/s00281-015-0478-4 doi (DE-627)SPR003628817 (SPR)s00281-015-0478-4-e DE-627 ger DE-627 rakwb eng Aksentijevich, Ivona verfasserin aut Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag (outside the USA) 2015 Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. Autoinflammation (dpeaa)DE-He213 Next generation sequencing (NGS) (dpeaa)DE-He213 Deficiency of ADA2 (DADA2) (dpeaa)DE-He213 STING-associated vasculopathy with onset in infancy (SAVI) (dpeaa)DE-He213 NLRC4-associated inflammatory diseases (dpeaa)DE-He213 TRNT1 deficiency/SIFD (dpeaa)DE-He213 LACC1-associated monogenic disease (dpeaa)DE-He213 Enthalten in Springer Seminars in immunopathology Berlin : Springer, 1978 37(2015), 4 vom: 10. Apr., Seite 395-401 (DE-627)271601337 (DE-600)1481154-6 1432-2196 nnns volume:37 year:2015 number:4 day:10 month:04 pages:395-401 https://dx.doi.org/10.1007/s00281-015-0478-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2010 AR 37 2015 4 10 04 395-401 |
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10.1007/s00281-015-0478-4 doi (DE-627)SPR003628817 (SPR)s00281-015-0478-4-e DE-627 ger DE-627 rakwb eng Aksentijevich, Ivona verfasserin aut Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag (outside the USA) 2015 Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. Autoinflammation (dpeaa)DE-He213 Next generation sequencing (NGS) (dpeaa)DE-He213 Deficiency of ADA2 (DADA2) (dpeaa)DE-He213 STING-associated vasculopathy with onset in infancy (SAVI) (dpeaa)DE-He213 NLRC4-associated inflammatory diseases (dpeaa)DE-He213 TRNT1 deficiency/SIFD (dpeaa)DE-He213 LACC1-associated monogenic disease (dpeaa)DE-He213 Enthalten in Springer Seminars in immunopathology Berlin : Springer, 1978 37(2015), 4 vom: 10. Apr., Seite 395-401 (DE-627)271601337 (DE-600)1481154-6 1432-2196 nnns volume:37 year:2015 number:4 day:10 month:04 pages:395-401 https://dx.doi.org/10.1007/s00281-015-0478-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2010 AR 37 2015 4 10 04 395-401 |
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10.1007/s00281-015-0478-4 doi (DE-627)SPR003628817 (SPR)s00281-015-0478-4-e DE-627 ger DE-627 rakwb eng Aksentijevich, Ivona verfasserin aut Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag (outside the USA) 2015 Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. Autoinflammation (dpeaa)DE-He213 Next generation sequencing (NGS) (dpeaa)DE-He213 Deficiency of ADA2 (DADA2) (dpeaa)DE-He213 STING-associated vasculopathy with onset in infancy (SAVI) (dpeaa)DE-He213 NLRC4-associated inflammatory diseases (dpeaa)DE-He213 TRNT1 deficiency/SIFD (dpeaa)DE-He213 LACC1-associated monogenic disease (dpeaa)DE-He213 Enthalten in Springer Seminars in immunopathology Berlin : Springer, 1978 37(2015), 4 vom: 10. Apr., Seite 395-401 (DE-627)271601337 (DE-600)1481154-6 1432-2196 nnns volume:37 year:2015 number:4 day:10 month:04 pages:395-401 https://dx.doi.org/10.1007/s00281-015-0478-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2010 AR 37 2015 4 10 04 395-401 |
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10.1007/s00281-015-0478-4 doi (DE-627)SPR003628817 (SPR)s00281-015-0478-4-e DE-627 ger DE-627 rakwb eng Aksentijevich, Ivona verfasserin aut Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag (outside the USA) 2015 Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. Autoinflammation (dpeaa)DE-He213 Next generation sequencing (NGS) (dpeaa)DE-He213 Deficiency of ADA2 (DADA2) (dpeaa)DE-He213 STING-associated vasculopathy with onset in infancy (SAVI) (dpeaa)DE-He213 NLRC4-associated inflammatory diseases (dpeaa)DE-He213 TRNT1 deficiency/SIFD (dpeaa)DE-He213 LACC1-associated monogenic disease (dpeaa)DE-He213 Enthalten in Springer Seminars in immunopathology Berlin : Springer, 1978 37(2015), 4 vom: 10. Apr., Seite 395-401 (DE-627)271601337 (DE-600)1481154-6 1432-2196 nnns volume:37 year:2015 number:4 day:10 month:04 pages:395-401 https://dx.doi.org/10.1007/s00281-015-0478-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2010 AR 37 2015 4 10 04 395-401 |
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10.1007/s00281-015-0478-4 doi (DE-627)SPR003628817 (SPR)s00281-015-0478-4-e DE-627 ger DE-627 rakwb eng Aksentijevich, Ivona verfasserin aut Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Springer-Verlag (outside the USA) 2015 Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. Autoinflammation (dpeaa)DE-He213 Next generation sequencing (NGS) (dpeaa)DE-He213 Deficiency of ADA2 (DADA2) (dpeaa)DE-He213 STING-associated vasculopathy with onset in infancy (SAVI) (dpeaa)DE-He213 NLRC4-associated inflammatory diseases (dpeaa)DE-He213 TRNT1 deficiency/SIFD (dpeaa)DE-He213 LACC1-associated monogenic disease (dpeaa)DE-He213 Enthalten in Springer Seminars in immunopathology Berlin : Springer, 1978 37(2015), 4 vom: 10. Apr., Seite 395-401 (DE-627)271601337 (DE-600)1481154-6 1432-2196 nnns volume:37 year:2015 number:4 day:10 month:04 pages:395-401 https://dx.doi.org/10.1007/s00281-015-0478-4 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_105 GBV_ILN_120 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2010 AR 37 2015 4 10 04 395-401 |
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Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years Autoinflammation (dpeaa)DE-He213 Next generation sequencing (NGS) (dpeaa)DE-He213 Deficiency of ADA2 (DADA2) (dpeaa)DE-He213 STING-associated vasculopathy with onset in infancy (SAVI) (dpeaa)DE-He213 NLRC4-associated inflammatory diseases (dpeaa)DE-He213 TRNT1 deficiency/SIFD (dpeaa)DE-He213 LACC1-associated monogenic disease (dpeaa)DE-He213 |
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update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years |
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Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years |
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Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. © Springer-Verlag (outside the USA) 2015 |
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Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. © Springer-Verlag (outside the USA) 2015 |
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Abstract Autoinflammatory diseases are a genetically heterogeneous group of rheumatologic diseases that are driven by abnormal activation of the innate immune system. Patients present with recurrent episodes of systemic inflammation and a spectrum of organ-specific comorbidities. These diseases are mediated by the overproduction of various inflammatory cytokines, such as IL-1, IL-18, IL-6, TNFα, and type I interferon. Treatments with biologic agents that inhibit these cytokines have been very efficient in most patients. During the past 2 years, remarkable progress has been made in the identification of disease-associated genes owing mostly to new technologies. Next generation sequencing technologies (NGS) have become instrumental in finding single-gene defects in undiagnosed patients with early onset symptoms. NGS has advanced the field of autoinflammation by identifying disease-causing genes that point to pathways not known to regulate cytokine signaling or inflammation. They include a protein that has a role in differentiation of myeloid cells, a ubiquitously expressed enzyme that catalyzes the addition of the CCA terminus to the 3-prime end of tRNA precursors, and an enzyme that catalyzes the oxidation of a broad range of substrates. Lastly, newly described mutations have informed a whole new dimension on genotype-phenotype relationships. Mutations in the same gene can give rise to a range of phenotypes with a common inflammatory component. This suggests greater than anticipated contributions by modifying alleles and environmental factors to disease expressivity. © Springer-Verlag (outside the USA) 2015 |
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