Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience
Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HP...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Vergara, Cristian [verfasserIn] Borzutzky, Arturo [verfasserIn] Gutierrez, Miguel A. [verfasserIn] Iacobelli, Sergio [verfasserIn] Talesnik, Eduardo [verfasserIn] Martinez, María E. [verfasserIn] Stange, Lilith [verfasserIn] Basualdo, Javier [verfasserIn] Maluje, Viviana [verfasserIn] Jimenez, Renato [verfasserIn] Wiener, Roberto [verfasserIn] Tinoco, Javier [verfasserIn] Jarpa, Elena [verfasserIn] Aróstegui, Juan I. [verfasserIn] Yagüe, Jordi [verfasserIn] Alvarez-Lobos, Manuel [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2012 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Clinical rheumatology - London : Springer, 1982, 31(2012), 5 vom: 28. Jan., Seite 829-834 |
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| Übergeordnetes Werk: |
volume:31 ; year:2012 ; number:5 ; day:28 ; month:01 ; pages:829-834 |
| Links: |
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| DOI / URN: |
10.1007/s10067-012-1942-3 |
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SPR00850797X |
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| 245 | 1 | 0 | |a Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience |
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| 520 | |a Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. | ||
| 650 | 4 | |a Autoinflammatory syndromes |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Familial Mediterranean fever |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Hispanics |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Periodic fevers |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Tumor necrosis factor receptor-associated periodic syndrome |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Borzutzky, Arturo |e verfasserin |4 aut | |
| 700 | 1 | |a Gutierrez, Miguel A. |e verfasserin |4 aut | |
| 700 | 1 | |a Iacobelli, Sergio |e verfasserin |4 aut | |
| 700 | 1 | |a Talesnik, Eduardo |e verfasserin |4 aut | |
| 700 | 1 | |a Martinez, María E. |e verfasserin |4 aut | |
| 700 | 1 | |a Stange, Lilith |e verfasserin |4 aut | |
| 700 | 1 | |a Basualdo, Javier |e verfasserin |4 aut | |
| 700 | 1 | |a Maluje, Viviana |e verfasserin |4 aut | |
| 700 | 1 | |a Jimenez, Renato |e verfasserin |4 aut | |
| 700 | 1 | |a Wiener, Roberto |e verfasserin |4 aut | |
| 700 | 1 | |a Tinoco, Javier |e verfasserin |4 aut | |
| 700 | 1 | |a Jarpa, Elena |e verfasserin |4 aut | |
| 700 | 1 | |a Aróstegui, Juan I. |e verfasserin |4 aut | |
| 700 | 1 | |a Yagüe, Jordi |e verfasserin |4 aut | |
| 700 | 1 | |a Alvarez-Lobos, Manuel |e verfasserin |4 aut | |
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10.1007/s10067-012-1942-3 doi (DE-627)SPR00850797X (SPR)s10067-012-1942-3-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.00 bkl 44.83 bkl Vergara, Cristian verfasserin aut Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. Autoinflammatory syndromes (dpeaa)DE-He213 Familial Mediterranean fever (dpeaa)DE-He213 Hispanics (dpeaa)DE-He213 Periodic fevers (dpeaa)DE-He213 Tumor necrosis factor receptor-associated periodic syndrome (dpeaa)DE-He213 Borzutzky, Arturo verfasserin aut Gutierrez, Miguel A. verfasserin aut Iacobelli, Sergio verfasserin aut Talesnik, Eduardo verfasserin aut Martinez, María E. verfasserin aut Stange, Lilith verfasserin aut Basualdo, Javier verfasserin aut Maluje, Viviana verfasserin aut Jimenez, Renato verfasserin aut Wiener, Roberto verfasserin aut Tinoco, Javier verfasserin aut Jarpa, Elena verfasserin aut Aróstegui, Juan I. verfasserin aut Yagüe, Jordi verfasserin aut Alvarez-Lobos, Manuel verfasserin aut Enthalten in Clinical rheumatology London : Springer, 1982 31(2012), 5 vom: 28. Jan., Seite 829-834 (DE-627)27159909X (DE-600)1480901-1 1434-9949 nnns volume:31 year:2012 number:5 day:28 month:01 pages:829-834 https://dx.doi.org/10.1007/s10067-012-1942-3 lizenzpflichtig 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_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_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 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_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.00 ASE 44.83 ASE AR 31 2012 5 28 01 829-834 |
| spelling |
10.1007/s10067-012-1942-3 doi (DE-627)SPR00850797X (SPR)s10067-012-1942-3-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.00 bkl 44.83 bkl Vergara, Cristian verfasserin aut Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. Autoinflammatory syndromes (dpeaa)DE-He213 Familial Mediterranean fever (dpeaa)DE-He213 Hispanics (dpeaa)DE-He213 Periodic fevers (dpeaa)DE-He213 Tumor necrosis factor receptor-associated periodic syndrome (dpeaa)DE-He213 Borzutzky, Arturo verfasserin aut Gutierrez, Miguel A. verfasserin aut Iacobelli, Sergio verfasserin aut Talesnik, Eduardo verfasserin aut Martinez, María E. verfasserin aut Stange, Lilith verfasserin aut Basualdo, Javier verfasserin aut Maluje, Viviana verfasserin aut Jimenez, Renato verfasserin aut Wiener, Roberto verfasserin aut Tinoco, Javier verfasserin aut Jarpa, Elena verfasserin aut Aróstegui, Juan I. verfasserin aut Yagüe, Jordi verfasserin aut Alvarez-Lobos, Manuel verfasserin aut Enthalten in Clinical rheumatology London : Springer, 1982 31(2012), 5 vom: 28. Jan., Seite 829-834 (DE-627)27159909X (DE-600)1480901-1 1434-9949 nnns volume:31 year:2012 number:5 day:28 month:01 pages:829-834 https://dx.doi.org/10.1007/s10067-012-1942-3 lizenzpflichtig 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_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_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 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_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.00 ASE 44.83 ASE AR 31 2012 5 28 01 829-834 |
| allfields_unstemmed |
10.1007/s10067-012-1942-3 doi (DE-627)SPR00850797X (SPR)s10067-012-1942-3-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.00 bkl 44.83 bkl Vergara, Cristian verfasserin aut Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. Autoinflammatory syndromes (dpeaa)DE-He213 Familial Mediterranean fever (dpeaa)DE-He213 Hispanics (dpeaa)DE-He213 Periodic fevers (dpeaa)DE-He213 Tumor necrosis factor receptor-associated periodic syndrome (dpeaa)DE-He213 Borzutzky, Arturo verfasserin aut Gutierrez, Miguel A. verfasserin aut Iacobelli, Sergio verfasserin aut Talesnik, Eduardo verfasserin aut Martinez, María E. verfasserin aut Stange, Lilith verfasserin aut Basualdo, Javier verfasserin aut Maluje, Viviana verfasserin aut Jimenez, Renato verfasserin aut Wiener, Roberto verfasserin aut Tinoco, Javier verfasserin aut Jarpa, Elena verfasserin aut Aróstegui, Juan I. verfasserin aut Yagüe, Jordi verfasserin aut Alvarez-Lobos, Manuel verfasserin aut Enthalten in Clinical rheumatology London : Springer, 1982 31(2012), 5 vom: 28. Jan., Seite 829-834 (DE-627)27159909X (DE-600)1480901-1 1434-9949 nnns volume:31 year:2012 number:5 day:28 month:01 pages:829-834 https://dx.doi.org/10.1007/s10067-012-1942-3 lizenzpflichtig 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_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_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 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_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.00 ASE 44.83 ASE AR 31 2012 5 28 01 829-834 |
| allfieldsGer |
10.1007/s10067-012-1942-3 doi (DE-627)SPR00850797X (SPR)s10067-012-1942-3-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.00 bkl 44.83 bkl Vergara, Cristian verfasserin aut Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. Autoinflammatory syndromes (dpeaa)DE-He213 Familial Mediterranean fever (dpeaa)DE-He213 Hispanics (dpeaa)DE-He213 Periodic fevers (dpeaa)DE-He213 Tumor necrosis factor receptor-associated periodic syndrome (dpeaa)DE-He213 Borzutzky, Arturo verfasserin aut Gutierrez, Miguel A. verfasserin aut Iacobelli, Sergio verfasserin aut Talesnik, Eduardo verfasserin aut Martinez, María E. verfasserin aut Stange, Lilith verfasserin aut Basualdo, Javier verfasserin aut Maluje, Viviana verfasserin aut Jimenez, Renato verfasserin aut Wiener, Roberto verfasserin aut Tinoco, Javier verfasserin aut Jarpa, Elena verfasserin aut Aróstegui, Juan I. verfasserin aut Yagüe, Jordi verfasserin aut Alvarez-Lobos, Manuel verfasserin aut Enthalten in Clinical rheumatology London : Springer, 1982 31(2012), 5 vom: 28. Jan., Seite 829-834 (DE-627)27159909X (DE-600)1480901-1 1434-9949 nnns volume:31 year:2012 number:5 day:28 month:01 pages:829-834 https://dx.doi.org/10.1007/s10067-012-1942-3 lizenzpflichtig 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_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_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 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_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.00 ASE 44.83 ASE AR 31 2012 5 28 01 829-834 |
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10.1007/s10067-012-1942-3 doi (DE-627)SPR00850797X (SPR)s10067-012-1942-3-e DE-627 ger DE-627 rakwb eng 610 ASE 610 ASE 44.00 bkl 44.83 bkl Vergara, Cristian verfasserin aut Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. Autoinflammatory syndromes (dpeaa)DE-He213 Familial Mediterranean fever (dpeaa)DE-He213 Hispanics (dpeaa)DE-He213 Periodic fevers (dpeaa)DE-He213 Tumor necrosis factor receptor-associated periodic syndrome (dpeaa)DE-He213 Borzutzky, Arturo verfasserin aut Gutierrez, Miguel A. verfasserin aut Iacobelli, Sergio verfasserin aut Talesnik, Eduardo verfasserin aut Martinez, María E. verfasserin aut Stange, Lilith verfasserin aut Basualdo, Javier verfasserin aut Maluje, Viviana verfasserin aut Jimenez, Renato verfasserin aut Wiener, Roberto verfasserin aut Tinoco, Javier verfasserin aut Jarpa, Elena verfasserin aut Aróstegui, Juan I. verfasserin aut Yagüe, Jordi verfasserin aut Alvarez-Lobos, Manuel verfasserin aut Enthalten in Clinical rheumatology London : Springer, 1982 31(2012), 5 vom: 28. Jan., Seite 829-834 (DE-627)27159909X (DE-600)1480901-1 1434-9949 nnns volume:31 year:2012 number:5 day:28 month:01 pages:829-834 https://dx.doi.org/10.1007/s10067-012-1942-3 lizenzpflichtig 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_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_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 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_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.00 ASE 44.83 ASE AR 31 2012 5 28 01 829-834 |
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English |
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Enthalten in Clinical rheumatology 31(2012), 5 vom: 28. Jan., Seite 829-834 volume:31 year:2012 number:5 day:28 month:01 pages:829-834 |
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Enthalten in Clinical rheumatology 31(2012), 5 vom: 28. Jan., Seite 829-834 volume:31 year:2012 number:5 day:28 month:01 pages:829-834 |
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Autoinflammatory syndromes Familial Mediterranean fever Hispanics Periodic fevers Tumor necrosis factor receptor-associated periodic syndrome |
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Clinical rheumatology |
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Vergara, Cristian @@aut@@ Borzutzky, Arturo @@aut@@ Gutierrez, Miguel A. @@aut@@ Iacobelli, Sergio @@aut@@ Talesnik, Eduardo @@aut@@ Martinez, María E. @@aut@@ Stange, Lilith @@aut@@ Basualdo, Javier @@aut@@ Maluje, Viviana @@aut@@ Jimenez, Renato @@aut@@ Wiener, Roberto @@aut@@ Tinoco, Javier @@aut@@ Jarpa, Elena @@aut@@ Aróstegui, Juan I. @@aut@@ Yagüe, Jordi @@aut@@ Alvarez-Lobos, Manuel @@aut@@ |
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2012-01-28T00:00:00Z |
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englisch |
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| author |
Vergara, Cristian |
| spellingShingle |
Vergara, Cristian ddc 610 bkl 44.00 bkl 44.83 misc Autoinflammatory syndromes misc Familial Mediterranean fever misc Hispanics misc Periodic fevers misc Tumor necrosis factor receptor-associated periodic syndrome Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience |
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1434-9949 |
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610 ASE 44.00 bkl 44.83 bkl Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience Autoinflammatory syndromes (dpeaa)DE-He213 Familial Mediterranean fever (dpeaa)DE-He213 Hispanics (dpeaa)DE-He213 Periodic fevers (dpeaa)DE-He213 Tumor necrosis factor receptor-associated periodic syndrome (dpeaa)DE-He213 |
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ddc 610 bkl 44.00 bkl 44.83 misc Autoinflammatory syndromes misc Familial Mediterranean fever misc Hispanics misc Periodic fevers misc Tumor necrosis factor receptor-associated periodic syndrome |
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ddc 610 bkl 44.00 bkl 44.83 misc Autoinflammatory syndromes misc Familial Mediterranean fever misc Hispanics misc Periodic fevers misc Tumor necrosis factor receptor-associated periodic syndrome |
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ddc 610 bkl 44.00 bkl 44.83 misc Autoinflammatory syndromes misc Familial Mediterranean fever misc Hispanics misc Periodic fevers misc Tumor necrosis factor receptor-associated periodic syndrome |
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Clinical rheumatology |
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Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience |
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(DE-627)SPR00850797X (SPR)s10067-012-1942-3-e |
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Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience |
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Vergara, Cristian |
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Clinical rheumatology |
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Clinical rheumatology |
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eng |
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600 - Technology |
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Vergara, Cristian Borzutzky, Arturo Gutierrez, Miguel A. Iacobelli, Sergio Talesnik, Eduardo Martinez, María E. Stange, Lilith Basualdo, Javier Maluje, Viviana Jimenez, Renato Wiener, Roberto Tinoco, Javier Jarpa, Elena Aróstegui, Juan I. Yagüe, Jordi Alvarez-Lobos, Manuel |
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Vergara, Cristian |
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10.1007/s10067-012-1942-3 |
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610 |
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clinical and genetic features of hereditary periodic fever syndromes in hispanic patients: the chilean experience |
| title_auth |
Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience |
| abstract |
Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. |
| abstractGer |
Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. |
| abstract_unstemmed |
Abstract Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1–35) and 8 years (range 0.3–21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5–15) for FMF and 21 days (range 9.5–30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations. |
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Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience |
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https://dx.doi.org/10.1007/s10067-012-1942-3 |
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Borzutzky, Arturo Gutierrez, Miguel A. Iacobelli, Sergio Talesnik, Eduardo Martinez, María E. Stange, Lilith Basualdo, Javier Maluje, Viviana Jimenez, Renato Wiener, Roberto Tinoco, Javier Jarpa, Elena Aróstegui, Juan I. Yagüe, Jordi Alvarez-Lobos, Manuel |
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Borzutzky, Arturo Gutierrez, Miguel A. Iacobelli, Sergio Talesnik, Eduardo Martinez, María E. Stange, Lilith Basualdo, Javier Maluje, Viviana Jimenez, Renato Wiener, Roberto Tinoco, Javier Jarpa, Elena Aróstegui, Juan I. Yagüe, Jordi Alvarez-Lobos, Manuel |
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10.1007/s10067-012-1942-3 |
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2024-07-03T21:28:31.795Z |
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| score |
7.3996916 |