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Angioedemas, HereditaryAngioedemaComplement C1 Inhibitor ProteinHereditary Angioedema Types I and IIComplement C1 Inactivator ProteinsHereditary Angioedema Type IIIDanazolComplement Inactivating AgentsStanozololSerine ProteasesComplement C4PregnadienesSerine EndopeptidasesKallikreinsSerineUrticariaFactor XIIaFactor XIICardiac Valve AnnuloplastySerine Proteinase InhibitorsSerpinsBradykininProtease InhibitorsAbdominal PainEdemaComplement C1sInjections, SubcutaneousDrug HypersensitivityMolecular Sequence DataAmino Acid SequenceMice, Inbred C57BLPeptide HydrolasesHIV ProteaseEndopeptidasesComplement C6Tongue DiseasesMannose-Binding Protein-Associated Serine Proteases
Human C1 esteraseDeficiencyAngioneurotic edemaLaryngeal angioedemaMutationsSerpinDysfunctionalInhibitsBradykininProteinCoagulation factorGeneAndrogensRecurrent episodesMonoclonalTreat acute attacksEpinephrineMutationDisorderAttacksEdemaOccurSymptomsDegradationProteinsGeneticLevelsTreatmentImmuneImagingMildLevelTypePatientsFoundTypesFamilyAffectCommon
Human C1 esterase2
  • A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. (lu.se)
  • The US Food and Drug Administration (FDA) has approved Ruconest, a recombinant human C1 esterase inhibitor (rhC1-INH), for the treatment of acute, symptomatic attacks of HAE in adults and adolescents. (medscape.com)
Deficiency9
  • The version related to bradykinin may occur due to an inherited problem known as C1 esterase inhibitor deficiency, medications known as angiotensin-converting enzyme inhibitors, or a lymphoproliferative disorder. (wikipedia.org)
  • In hereditary angioedema, bradykinin formation is caused by continuous activation of the complement system due to a deficiency in one of its prime inhibitors, C1-esterase (aka: C1-inhibitor or C1INH), and continuous production of kallikrein, another process inhibited by C1INH. (wikipedia.org)
  • Cugno M, Zanichelli A, Foieni F, Caccia S, Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. (medlineplus.gov)
  • C1 inhibitor deficiency or dysfunction not only affects complement activation but also results in increased levels of bradykinin because C1 inhibitor inhibits activated kallikrein (required for the generation of bradykinin) in the kinin system pathway. (msdmanuals.com)
  • Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. (lu.se)
  • First case of homozygous C1 inhibitor deficiency. (lu.se)
  • Hereditary angioedema (HAE) is a rare disease caused by the deficiency of C1 esterase inhibitor. (anesth-pain-med.org)
  • Hereditary angioedema (HAE) is a rare, life-threatening autosomal dominant disorder caused by a deficiency of C1 esterase inhibitor (C1-INH), with an estimated prevalence of 1:50,000 [ 1 , 2 ]. (anesth-pain-med.org)
  • OBJECTIVE: To explore the laboratory phenotype and molecular pathogenesis in a Chinese pedigree affected with Hereditary coagulation factor â « (Fâ «) deficiency. (bvsalud.org)
Angioneurotic edema1
Laryngeal angioedema1
Mutations11
  • Mutations in the SERPING1 gene cause hereditary angioedema type I and type II. (medlineplus.gov)
  • Mutations that cause hereditary angioedema type I lead to reduced levels of C1 inhibitor in the blood, while mutations that cause type II result in the production of a C1 inhibitor that functions abnormally. (medlineplus.gov)
  • Mutations in the F12 gene are associated with some cases of hereditary angioedema type III. (medlineplus.gov)
  • Type 1 and type 2 involve mutations of the gene encoding C1 inhibitor. (msdmanuals.com)
  • It is characterized by normal C1 inhibitor and is sometimes due to genetic mutations that result in abnormal forms of factor XII, plasminogen, angiopoietin 1, or kininogen. (msdmanuals.com)
  • Hereditary angioedema in Greek families caused by novel and recurrent mutations. (lu.se)
  • Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. (lu.se)
  • Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations. (lu.se)
  • Five novel mutations in the C1 inhibitor gene (C1NH) leading to a premature stop codon in patients with type I hereditary angioedema. (lu.se)
  • Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema. (lu.se)
  • Detection of C1 inhibitor mutations in patients with hereditary angioedema. (lu.se)
Serpin2
  • This serine protease inhibitor (serpin) normally inhibits the association of C1r and C1s with C1q to prevent the formation of the C1-complex, which - in turn - activates other proteins of the complement system. (wikipedia.org)
  • Some members of the serpin family may be substrates rather than inhibitors of SERINE ENDOPEPTIDASES, and some serpins occur in plants where their function is not known. (lookformedical.com)
Dysfunctional2
  • Type 2 results from a dysfunctional C1 inhibitor. (msdmanuals.com)
  • Type I is diagnosed by low levels of C1-INH and C, and type II is diagnosed by normal levels but dysfunctional C1-INH [ 1 , 2 ]. (anesth-pain-med.org)
Inhibits1
  • A plasma alpha 2 glycoprotein that accounts for the major antithrombin activity of normal plasma and also inhibits several other enzymes. (lookformedical.com)
Bradykinin7
Protein4
  • There are three types of hereditary angioedema, called types I, II, and III, which can be distinguished by their underlying causes and levels of a protein called C1 inhibitor in the blood. (medlineplus.gov)
  • The SERPING1 gene provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. (medlineplus.gov)
  • The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema. (lu.se)
  • Prophylactic treatment includes attenuated androgens and the C1 inhibitor protein product Cinryze. (medscape.com)
Coagulation factor1
  • BACKGROUND AND AIMS: We aimed to elucidate a hereditary mutation of coagulation factor XII (FXII) in a consanguineous Chinese family. (bvsalud.org)
Gene5
  • A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema. (lu.se)
  • Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. (lu.se)
  • Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. (lu.se)
  • Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling. (lu.se)
  • A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema. (lu.se)
Androgens1
  • Prophylaxis is with attenuated androgens, which increase C1 inhibitor levels. (msdmanuals.com)
Recurrent episodes1
Monoclonal2
  • C1 inhibitor autoantibody is produced in monoclonal gammopathy. (msdmanuals.com)
  • Here we test the effects of TNT003, a mouse monoclonal antibody targeting the CP-specific serine protease C1s, on CP activity induced by cold agglutinins on human RBCs. (ashpublications.org)
Treat acute attacks1
Epinephrine1
Mutation1
  • Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. (lu.se)
Disorder1
  • Hereditary angioedema is a rare disorder passed from your ancestors, which causes inflammation. (thplasma.com)
Attacks4
  • citation needed] In hereditary angioedema (HAE), often no direct cause is identifiable, although mild trauma, including dental work and other stimuli, can cause attacks. (wikipedia.org)
  • The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family. (medlineplus.gov)
  • Severe attacks of angioedema can herald the onset of systemic anaphylaxis, characterized initially by dyspnea. (medscape.com)
  • Although rare, hereditary angioedema (HAE) is associated with episodic attacks of edema formation that can have catastrophic consequences. (medscape.com)
Edema1
  • Angioedema is an area of swelling (edema) of the lower layer of skin and tissue just under the skin or mucous membranes. (wikipedia.org)
Occur1
Symptoms2
  • As the symptoms begin to diminish, the white count slowly begins to decrease, returning to normal when the attack subsides. (wikipedia.org)
  • Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. (medlineplus.gov)
Degradation1
Proteins2
  • C1 inhibitor blocks the activity of certain proteins that promote inflammation. (medlineplus.gov)
  • Serum proteins that inhibit, antagonize, or inactivate COMPLEMENT C1 or its subunits. (lookformedical.com)
Genetic1
  • Like hemophilia, Von Willebrand Disease (VWD) is a genetic disease that can be hereditary. (thplasma.com)
Levels2
  • Normal levels of this kind of substance range from 16 to 33mg per deciliter. (thplasma.com)
  • HAE can be classified by the levels of C1-INH. (anesth-pain-med.org)
Treatment2
  • The primary goal of medical treatment for angioedema is to reduce and prevent swelling, as well as to reduce discomfort and complication. (medscape.com)
  • Our results support the development of a CP inhibitor for the treatment of CAD. (ashpublications.org)
Immune1
  • Esterase Inhibitor (C1-Inh) is a vital substance that your body needs for regulating the immune system. (thplasma.com)
Imaging1
Mild1
Level2
  • An abnormal level of this can be a symptom of hereditary angioedema. (thplasma.com)
  • According to the laboratory results, the level of C4 and C1-INH were 7.15 mg/dl (normal range: 10-40 mg/dl) and 5.0 mg/dl (normal range: 21-39 mg/dl), respectively. (anesth-pain-med.org)
Type3
Patients1
  • The value of aeroallergen screening for patients with angioedema is limited, except with regard to establishing atopic status. (medscape.com)
Found1
Types1
Family2
Affect3
Common1