A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom [PDF]
Journal of Allergy and Clinical Immunology: in Practice, 2023 BACKGROUND Detailed demographic data on people with hereditary angioedema and acquired C1 inhibitor deficiency in the UK are relatively limited. Better demographic data would be beneficial in planning service provision, identifying areas of improvement ...
Patrick F K Yong +2 more
exaly +9 more sources
C1-inhibitor/C1-inhibitor antibody complexes in acquired angioedema due to C1-inhibitor deficiency [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Autoantibodies against C1-inhibitor (C1-INH-Ab) have a diagnostic value in acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE), even though antibodies can circulate in complexes, which can be undetectable by proven methods. Our aim
Zsofia Polai +6 more
doaj +4 more sources
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE) [PDF]
Frontiers in Allergy, 2022 Existing evidence indicates that modifier genes could change the phenotypic outcome of the causal SERPING1 variant and thus explain the expression variability of hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE).
Faidra Parsopoulou +18 more
doaj +3 more sources
Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Acquired angioedema due to C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is a serious condition that may result in life-threatening asphyxiation due to laryngeal edema. It is associated with malignant B-cell lymphoma and other disorders.
Konrad Bork +2 more
doaj +5 more sources
Editorial: C1 inhibitor deficiency and angioedema [PDF]
Frontiers in Allergy, 2022 Henriette Farkas +2 more
doaj +4 more sources
C1 inhibitor deficiency: consensus document [PDF]
Clinical and Experimental Immunology, 2005 SummaryWe present a consensus document on the diagnosis and management of C1 inhibitor deficiency, a syndrome characterized clinically by recurrent episodes of angio-oedema. In hereditary angio-oedema, a rare autosomal dominant condition, C1 inhibitor function is reduced due to impaired transcription or production of non-functional protein.
M Abinun
exaly +4 more sources
13th C1-inhibitor deficiency and angioedema workshop—2023 [PDF]
Allergy, Asthma & Clinical Immunology, 2023 doaj +3 more sources
A Retrospective Analysis of Long-Term Prophylaxis with Berotralstat in Patients with Hereditary Angioedema and Acquired C1-Inhibitor Deficiency-Real-World Data. [PDF]
Clin Rev Allergy Immunol, 2023 Hereditary angioedema (HAE) and acquired C1-inhibitor deficiency (AAE-C1-INH) are orphan diseases. Berotralstat is a recently licensed long-term prophylaxis (LTP) and the first oral therapy for HAE patients.
Johnson F +9 more
europepmc +2 more sources
Diagnosing Pediatric Patients With Hereditary C1-Inhibitor Deficiency-Experience From the Hungarian Angioedema Center of Reference and Excellence. [PDF]
Front Allergy, 2022 Background Hereditary Angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a rare disease characterized by recurrent subcutaneous and/or submucosal edematous (HAE) episodes, which may occur at any age. The mean age of the symptom onset is 10–12 years.
Andrási N +6 more
europepmc +2 more sources
Blood, 2023 C1 inhibitor (C1INH) is a multifunctional serine protease inhibitor that functions as a major negative regulator of several biological pathways, including the contact pathway of blood coagulation.
Grover SP +16 more
europepmc +2 more sources