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First case of homozygous C1 inhibitor deficiency
C1 Inhibitor (C1-Inh) deficiency causes angioedema and can be hereditary (HAE), caused by mutations in the C1-Inh gene (C1NH), or acquired (AAE). Patients with HAE show a complement profile different from that of patients with AAE with normal levels of C1 (C1q, C1r, and C1s).We sought to characterize the complement profile of a patient with HAE and a ...
Blanch, Alvaro +5 more
openaire +4 more sources
BACKGROUND: Administration of C1-inhibitor concentrate is effective for prophylaxis and treatment of severe angioedema attacks caused by C1-inhibitor deficiency.
, C Erik Hack
exaly +2 more sources
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Acquired C1 Esterase Inhibitor Deficiency
Annals of Internal Medicine, 2000Acquired C1 esterase inhibitor deficiency is a rare condition associated with autoimmune or low-grade lymphoproliferative disorders. Adults or elderly patients are most commonly affected. The diagnosis is suspected when patients present with recurrent angioedema and low serum levels of C4 with normal levels of C3.
T, Caballero +2 more
+9 more sources
Journal of Allergy and Clinical Immunology: In Practice, 2023
BACKGROUND Angioedema (AE) due to acquired C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is related to excessive consumption of C1-INH or to anti-C1-INH antibodies (Ab), and is frequently associated with lymphoproliferative syndromes or monoclonal ...
Galith Kalmi +26 more
semanticscholar +1 more source
BACKGROUND Angioedema (AE) due to acquired C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is related to excessive consumption of C1-INH or to anti-C1-INH antibodies (Ab), and is frequently associated with lymphoproliferative syndromes or monoclonal ...
Galith Kalmi +26 more
semanticscholar +1 more source
Best Practice & Research Clinical Gastroenterology, 2005
Hereditary and acquired deficiencies of the C1 inhibitor result in a single prominent symptom, namely angioedema. Angioedema may involve the skin, the gastrointestinal tract or the upper airway. Genetically determined defects in C1INH cause hereditary angioedema.
Fred S, Rosen, Alvin E, Davis
openaire +2 more sources
Hereditary and acquired deficiencies of the C1 inhibitor result in a single prominent symptom, namely angioedema. Angioedema may involve the skin, the gastrointestinal tract or the upper airway. Genetically determined defects in C1INH cause hereditary angioedema.
Fred S, Rosen, Alvin E, Davis
openaire +2 more sources
C1 inhibitor deficiency: management
Clinical and Experimental Dermatology, 2005This is the second of two articles on C1 inhibitor deficiency based on a recent UK consensus document covering its diagnosis and management in adults and children. This summary focuses on the management of the disorder including prophylaxis, emergency treatment and special situations such as pregnancy and dental care.
M M, Gompels, R J, Lock
openaire +2 more sources
Acquired C1 Inhibitor Deficiency
Immunology and Allergy Clinics of North America, 2017Acquired angioedema due to C1-INH deficiency (C1-INH-AAE) can occur when there are acquired (not inherited) deficiencies of C1-INH. A quantitative or functional C1-INH deficiency with negative family history and low C1q is diagnostic of C1-INH-AAE. The most common conditions associated with C1-INH-AAE are autoimmunity and B-cell lymphoproliferative ...
Iris M, Otani, Aleena, Banerji
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Acquired Angioedema due to C1-Inhibitor Deficiency: A Challenging Condition
International Archives of Allergy and Immunology, 2022Background: Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a very rare cause of recurrent angioedema, with few cases reported in the literature.
S. Valle +13 more
semanticscholar +1 more source
Emerging drugs for the treatment of hereditary angioedema due to C1-inhibitor deficiency
Expert Opinion on Emerging Drugs, 2022Introduction Hereditary angioedema due to C1-inhibitor (C1-INH-HAE) is a rare disease characterized by unpredictable swelling attacks that may be life-threatening when affecting the upper airways.
A. Zanichelli +5 more
semanticscholar +1 more source
Autoimmune C1 Inhibitor Deficiency and Angioedema
Dermatology, 2009C1 inhibitor (C1-INH) deficiency results in bouts of mucocutaneous edema and may be inherited (hereditary angioedema) or acquired (acquired angioedema). The syndrome of acquired angioedema, characterized by the adult onset of angioedema and by the lack of evidence of inheritance of the disease, may be associated with lymphoproliferative or other ...
R, Valsecchi +3 more
openaire +2 more sources

