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Identification of a novel mutation in the SERPING1 gene in a 17-year-old Chinese girl with type I hereditary angioedema.
JAAD Case Rep
February 2025
Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, China.
Indirect treatment comparison of lanadelumab and a C1-esterase inhibitor in pediatric patients with hereditary angioedema.
J Comp Eff Res
January 2025
ICON plc, Insights, Evidence & Value - Health Economics & Epidemiology, Langen, Germany.
To compare the efficacy and safety of lanadelumab versus other approved long-term prophylaxis (LTP) treatments in patients with pediatric hereditary angioedema (HAE) aged <12 years. A systematic literature review was conducted to identify studies of LTP in patients with HAE aged <12 years. Two studies met the inclusion criteria in an indirect treatment comparison of efficacy and safety data in pediatric HAE patients.
View Article and Find Full Text PDFWorldwide Prevalence of Hereditary Angioedema: A Systematic Review and Meta-Analysis.
Int Arch Allergy Immunol
January 2025
Introduction: Hereditary angioedema (HAE) is a rare disease caused by dysfunction or lack of the C1 esterase inhibitor (C1-INH) protein. The true prevalence of HAE, and whether this prevalence differs across regions, is uncertain.
Methods: To estimate the prevalence of HAE worldwide, a systematic review and meta-analysis was performed.
N-glycosylation in the SERPIN domain of C1-Esterase Inhibitor in hereditary angioedema.
JCI Insight
January 2025
Medicine, Washington University School of Medicine, St. Louis, United States of America.
Hereditary angioedema is an autosomal dominant disorder caused by defects in C1-esterase inhibitor (C1-INH), resulting in poorly controlled activation of the kallikrein-kinin system and bradykinin overproduction. C1-INH is a heavily glycosylated protein in the serine protease inhibitor (SERPIN) family, yet the role of these glycosylation sites remains unclear. To elucidate the functional impact of N-glycosylation in the SERPIN domain of C1-INH, we engineered four sets consisting of 26 variants at or near the N-linked sequon (NXS/T).
View Article and Find Full Text PDFValidating and utilizing dried blood spots for family screening: Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).
J Allergy Clin Immunol Glob
February 2025
Division of Rheumatology & Clinical Immunology, Department of Medicine, Queen Mary Hospital, Hong Kong.
Background: Hereditary angioedema (HAE) is a rare genetic disorder with potentially life-threatening consequences, traditionally diagnosed by conventional laboratory methods that can be resource intensive and inconvenient. Incorporating dried blood spot (DBS) tests may be a promising alternative for diagnosing HAE and family screening.
Objective: This study aimed to validate DBS with conventional laboratory assays among confirmed C1 esterase inhibitor (C1-INH) HAE patients and assess the utility of DBS in a Screening Programme Providing Outreach for Testing Hereditary Angioedema (SPPOT-HAE).
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