补体研究与C1INH基因检测在儿童I型遗传性血管性水肿诊断中的比较 - Suppr

Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children.

作者信息

Pedrosa María, Phillips-Angles Elsa, López-Lera Alberto, López-Trascasa Margarita, Caballero Teresa

机构信息

Department of Allergy, Hospital La Paz Institute for Health Research (IdiPAZ), P. Castellana, 261, 28046, Madrid, Spain.

Department of Immunology, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.

出版信息

J Clin Immunol. 2016 Jan;36(1):16-8. doi: 10.1007/s10875-015-0222-9. Epub 2015 Dec 10.

DOI:10.1007/s10875-015-0222-9

PMID:26661330

Abstract

摘要

相似文献

Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children.

J Clin Immunol. 2016 Jan;36(1):16-8. doi: 10.1007/s10875-015-0222-9. Epub 2015 Dec 10.

Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations.

J Allergy Clin Immunol. 2013 Jun;131(6):1708-11. doi: 10.1016/j.jaci.2012.11.015. Epub 2012 Dec 23.

Angioedema due to allergy in a patient with hereditary angioedema: all that glitters is not gold.

Ann Allergy Asthma Immunol. 2016 Apr;116(4):376. doi: 10.1016/j.anai.2016.01.020. Epub 2016 Feb 23.

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.

Allergy. 2011 Oct;66(10):1384-90. doi: 10.1111/j.1398-9995.2011.02658.x. Epub 2011 May 30.

Successful prophylaxis with recombinant human C1 inhibitor in a patient with hereditary angioedema.

Ann Allergy Asthma Immunol. 2015 Jan;114(1):64-5. doi: 10.1016/j.anai.2014.10.002. Epub 2014 Nov 6.

Type 1 hereditary angioedema in a 72-year-old woman.

Ann Allergy Asthma Immunol. 2016 Apr;116(4):378-9. doi: 10.1016/j.anai.2016.01.024. Epub 2016 Mar 3.

Pathophysiology of hereditary angioedema.

Am J Rhinol Allergy. 2011 Nov-Dec;25(6):373-8. doi: 10.2500/ajra.2011.25.3661.

Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema.

Int Arch Allergy Immunol. 2010;151(2):149-54. doi: 10.1159/000236005. Epub 2009 Sep 15.

Factor XII-independent activation of the bradykinin-forming cascade: Implications for the pathogenesis of hereditary angioedema types I and II.

J Allergy Clin Immunol. 2013 Aug;132(2):470-5. doi: 10.1016/j.jaci.2013.03.026. Epub 2013 May 11.

Hereditary angioedema: 44 years of diagnostic delay.

Dermatol Online J. 2016 Apr 18;22(4):13030/qt5cf802wr.

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Evaluating functional C1INH with multiple laboratory methods across Hereditary Angioedema types.

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Characteristics and Drug Utilization of Patients with Hereditary Angioedema in Italy, a Real-World Analysis.

Healthcare (Basel). 2023 Sep 10;11(18):2509. doi: 10.3390/healthcare11182509.

The impact of puberty on the onset, frequency, location, and severity of attacks in hereditary angioedema due to C1-inhibitor deficiency: A survey from the Italian Network for Hereditary and Acquired Angioedema (ITACA).

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Pediatric Angioedema without Wheals: How to Guide the Diagnosis.

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Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency-Experience From the Hungarian Angioedema Center of Reference and Excellence.

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The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.

World Allergy Organ J. 2022 Apr 7;15(3):100627. doi: 10.1016/j.waojou.2022.100627. eCollection 2022 Mar.

Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.

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Hereditary angioedema: a disease seldom diagnosed by pediatricians.

J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S10-S16. doi: 10.1016/j.jped.2020.10.011. Epub 2020 Nov 30.

Pediatric Angioedema.

Curr Allergy Asthma Rep. 2017 Aug 8;17(9):60. doi: 10.1007/s11882-017-0729-7.

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema.

Orphanet J Rare Dis. 2017 Mar 16;12(1):55. doi: 10.1186/s13023-017-0604-6.

本文引用的文献

Complement profile in neonates of different gestational ages.

Scand J Immunol. 2014 Apr;79(4):276-81. doi: 10.1111/sji.12154.

WAO Guideline for the Management of Hereditary Angioedema.

World Allergy Organ J. 2012 Dec;5(12):182-99. doi: 10.1097/WOX.0b013e318279affa.

Consensus statement on the diagnosis, management, and treatment of angioedema mediated by bradykinin. Part I. Classification, epidemiology, pathophysiology, genetics, clinical symptoms, and diagnosis.

J Investig Allergol Clin Immunol. 2011;21(5):333-47; quiz follow 347.

SERPING1 mutations in 59 families with hereditary angioedema.

Mol Immunol. 2011 Oct;49(1-2):18-27. doi: 10.1016/j.molimm.2011.07.010. Epub 2011 Aug 23.

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Hum Mutat. 2005 Aug;26(2):135-44. doi: 10.1002/humu.20197.

C1 inhibitor and diagnosis of hereditary angioedema in newborns.

Pediatr Res. 1994 Feb;35(2):184-7. doi: 10.1203/00006450-199402000-00012.

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Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children.

作者信息

Pedrosa María, Phillips-Angles Elsa, López-Lera Alberto, López-Trascasa Margarita, Caballero Teresa

机构信息

Department of Allergy, Hospital La Paz Institute for Health Research (IdiPAZ), P. Castellana, 261, 28046, Madrid, Spain.

Department of Immunology, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.

出版信息

J Clin Immunol. 2016 Jan;36(1):16-8. doi: 10.1007/s10875-015-0222-9. Epub 2015 Dec 10.

DOI:10.1007/s10875-015-0222-9

PMID:26661330

Abstract

摘要

相似文献

Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children.

J Clin Immunol. 2016 Jan;36(1):16-8. doi: 10.1007/s10875-015-0222-9. Epub 2015 Dec 10.

Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations.

J Allergy Clin Immunol. 2013 Jun;131(6):1708-11. doi: 10.1016/j.jaci.2012.11.015. Epub 2012 Dec 23.

Angioedema due to allergy in a patient with hereditary angioedema: all that glitters is not gold.

Ann Allergy Asthma Immunol. 2016 Apr;116(4):376. doi: 10.1016/j.anai.2016.01.020. Epub 2016 Feb 23.

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.

Allergy. 2011 Oct;66(10):1384-90. doi: 10.1111/j.1398-9995.2011.02658.x. Epub 2011 May 30.

Successful prophylaxis with recombinant human C1 inhibitor in a patient with hereditary angioedema.

Ann Allergy Asthma Immunol. 2015 Jan;114(1):64-5. doi: 10.1016/j.anai.2014.10.002. Epub 2014 Nov 6.

Type 1 hereditary angioedema in a 72-year-old woman.

Ann Allergy Asthma Immunol. 2016 Apr;116(4):378-9. doi: 10.1016/j.anai.2016.01.024. Epub 2016 Mar 3.

Pathophysiology of hereditary angioedema.

Am J Rhinol Allergy. 2011 Nov-Dec;25(6):373-8. doi: 10.2500/ajra.2011.25.3661.

Novel and recurrent mutations in the C1NH gene of Arab patients affected with hereditary angioedema.

Int Arch Allergy Immunol. 2010;151(2):149-54. doi: 10.1159/000236005. Epub 2009 Sep 15.

Factor XII-independent activation of the bradykinin-forming cascade: Implications for the pathogenesis of hereditary angioedema types I and II.

J Allergy Clin Immunol. 2013 Aug;132(2):470-5. doi: 10.1016/j.jaci.2013.03.026. Epub 2013 May 11.

Hereditary angioedema: 44 years of diagnostic delay.

Dermatol Online J. 2016 Apr 18;22(4):13030/qt5cf802wr.

引用本文的文献

Evaluating functional C1INH with multiple laboratory methods across Hereditary Angioedema types.

Front Immunol. 2025 Aug 26;16:1654078. doi: 10.3389/fimmu.2025.1654078. eCollection 2025.

Characteristics and Drug Utilization of Patients with Hereditary Angioedema in Italy, a Real-World Analysis.

Healthcare (Basel). 2023 Sep 10;11(18):2509. doi: 10.3390/healthcare11182509.

Front Pediatr. 2023 Apr 18;11:1141073. doi: 10.3389/fped.2023.1141073. eCollection 2023.

Pediatric Angioedema without Wheals: How to Guide the Diagnosis.

Life (Basel). 2023 Apr 15;13(4):1021. doi: 10.3390/life13041021.

Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency-Experience From the Hungarian Angioedema Center of Reference and Excellence.

Front Allergy. 2022 May 4;3:860355. doi: 10.3389/falgy.2022.860355. eCollection 2022.

The international WAO/EAACI guideline for the management of hereditary angioedema - The 2021 revision and update.

World Allergy Organ J. 2022 Apr 7;15(3):100627. doi: 10.1016/j.waojou.2022.100627. eCollection 2022 Mar.

Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.

Front Allergy. 2022 Mar 17;3:836465. doi: 10.3389/falgy.2022.836465. eCollection 2022.

Hereditary angioedema: a disease seldom diagnosed by pediatricians.

J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S10-S16. doi: 10.1016/j.jped.2020.10.011. Epub 2020 Nov 30.

Pediatric Angioedema.

Curr Allergy Asthma Rep. 2017 Aug 8;17(9):60. doi: 10.1007/s11882-017-0729-7.

Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema.

Orphanet J Rare Dis. 2017 Mar 16;12(1):55. doi: 10.1186/s13023-017-0604-6.

本文引用的文献

Complement profile in neonates of different gestational ages.

Scand J Immunol. 2014 Apr;79(4):276-81. doi: 10.1111/sji.12154.

WAO Guideline for the Management of Hereditary Angioedema.

World Allergy Organ J. 2012 Dec;5(12):182-99. doi: 10.1097/WOX.0b013e318279affa.

J Investig Allergol Clin Immunol. 2011;21(5):333-47; quiz follow 347.

SERPING1 mutations in 59 families with hereditary angioedema.

Mol Immunol. 2011 Oct;49(1-2):18-27. doi: 10.1016/j.molimm.2011.07.010. Epub 2011 Aug 23.

Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.

Hum Mutat. 2005 Aug;26(2):135-44. doi: 10.1002/humu.20197.

C1 inhibitor and diagnosis of hereditary angioedema in newborns.

Pediatr Res. 1994 Feb;35(2):184-7. doi: 10.1203/00006450-199402000-00012.

Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children.

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Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children.

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