C1-inhibitor deficiency
Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study
... with C1 inhibitor deficiency (C1- INH-HAE) is a rare, inherited disease, clinically charac- terized by recurrent acute swelling episodes on the ex- tremities, abdomen, face, trunk, or airways, ...
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Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study
... with C1-inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disorder with a reported prevalence of approximately 1 case per 50,000 persons [1, ...hibitor C1-INH [1]. ...
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Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency
... by C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant ...disorder. C1-INH-HAE is characterized by edema – formation, which may occur in response to ...of ...
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Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon
... the C1 INH gene was detected by Southern blot analysis of the patient's DNA after digestion with Pst I or Sac I, and hybridization with a full-length C1 INH ...the C1 INH ...abnormal C1 INH ...
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Management of Children With Hereditary Angioedema Due to C1 Inhibitor Deficiency
... morbidity, and allow for a normal childhood. Treatment of attacks on demand (ie, whenever they occur) may accomplish this goal. Multiple specific and effective medications are available for the on-demand treatment of ...
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Abdominal attacks and treatment in hereditary angioedema with C1-inhibitor deficiency
... a deficiency in C1- inhibitor (HAE-C1INH), although HAE with normal C1-INH (HAEnC1) has been described ...[6]. C1-INH is a serine-protease inhibitor that regulates the activation ...
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Nine year follow-up of a rare case of angioedema due to acquired C1-inhibitor deficiency with late onset and good response to attenuated androgen
... when C1 inhibitor esterase (C1-INH) deficiency was ...negative. C1-INH and complement fraction C4 plasma levels were significantly decreased at all measurements, but no diagnostic ...
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The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories
... of C1-INH function using contact-phase proteases as target, assessment of kinin formation during attacks through spontaneous kininogenase (amidase) activity, activation of kinin-forming zymogens, and HMWK plasma ...
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The influence of trigger factors on hereditary angioedema due to C1-inhibitor deficiency
... During the initial phase of the study from 2004 to 2010, we performed diagnostic evaluation (family history, symp- toms, genetic testing, and complement studies) of 140 HAE-C1-INH patients at the Hungarian HAE ...
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A nationwide survey of hereditary angioedema due to C1 inhibitor deficiency in Italy
... either C1-INH antigen or function ...with C1-INH antigen >50% of ...with C1-INH anti- gen levels slightly above 50% should have been diag- nosed as type II, but they were classified as type I ...
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Abstracts of 11th C1-inhibitor Deficiency & Angioedema Workshop
... Six members of a Greek family with type I C1-INH-HAE were examined. Conventional genotyping of the family members by sequencing all SERPING1 translated regions and intron–exon boundaries, long-range PCR and ...
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Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate
... Patients with a confirmed diagnosis of AAE-C1-INH at- tending our outpatient clinic, Department of Dermatol- ogy, University of Mainz, Germany (AOSM), were eligible for this observational study. In total, 44 ...
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Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency
... Complement is a first-line defense of innate immunity, which aids the clearance of pathogens by opsonic, lytic, inflammatory, and immunomodulatory activities [30]. The C5a complement anaphylatoxin is a strong chemo- ...
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Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency
... Thirty-nine C1-INH-HAE patients (12 men and 27 women, median age: 35 years, 25 to 75 th percentiles: 22– 50 years), 33 with type I, and 6 with type II of C1-INH- HAE, were enrolled into our ...functional ...
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Abstracts from the 10th C1-inhibitor deficiency workshop
... a C1-inhibitor workshop in ...low C1 inhibitor ...Recombinant C1-inhibitor and a C1-inhibitor concentrate were offered in ED in a small amount from 2015 and it was ...
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Pediatric hereditary angioedema due to C1-inhibitor deficiency
... HAE Center consists of the following five organizational units: outpatient clinic, inpatient facility for the emer- gency therapy of adult and pediatric patients, comple- ment laboratory, molecular genetics laboratory, ...
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Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency
... Angioedema attacks caused by C1-INH deficiency are medi- ated by the excessive release of vasoactive bradykinin. This release is initiated by the uncontrolled activation of factor XII, a protein that ...
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Allergic diseases in the elderly
... hereditary deficiency in the C1 inhibitor (HAE-C1-INH) has its onset in the ...acquired C1 inhibitor deficiency (AAE-C1-INH) presents in the older age [59], and it ...
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Frequency of the virilising effects of attenuated androgens reported by women with hereditary angioedema
... to C1 inhibitor deficiency (C1-INH-HAE) is an autosomal dominant disorder; a form of bradykinin-mediated ...with C1-INH-HAE are more likely to experience symptoms than are men ...with ...
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Demonstration of modified inactive first component of complement (C1) inhibitor in the plasmas of C1 inhibitor deficient patients
... (C1) inhibitor plays a critical role in the regulation of the classical complement pathway and the contact system, and the deficiency of C1 inhibitor protein or function is associated ...
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