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      Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

      , MD, , MD, , MD, FRCPC, , , MD , , MD, CCA , , MD , , MPA, , MD , , MD, , MD, , PhD , , , MD, PhD , , MD, , MD, PhD, DSc, , MD, , MD, , MD, PhD, DSc , , MD, , PhD, , MD, PhD , , MD, PhD, , MD, , MD, , , MD, PhD, , MD, PhD, DSc, , , MD, , MD, PhD, , MD, PhD, DSc, , MA, MRCP, PhD, MRCPath , , MD, PhD , , MD, , PhD, , , , MD, PhD , , MD, PhD, , RGN, , PhD , , , , MD, , , , , PhD, FAMH, , MD, , MD, , MD, PhD , , MD, PhD , , PhD , , MD, , BS, MA, MFA, , , MD

      The Journal of Allergy and Clinical Immunology

      American Academy of Allergy, Asthma and Immunology. Published by Mosby, Inc.

      AAE, acquired angioedema, angioedema, C1 esterase inhibitor, C1-INH, HAE, HANE, HANO, hereditary angioedema, hereditary angioneurotic edema, angioneurotic edema, chemically induced angioedema, human SERPING1 protein, AAE, Acquired angioedema, AAEE, (Italian) Voluntary Association for the Study, Therapy, and Fight Against Hereditary Angioedema , ACE, Angiotensin-converting enzyme, APP, Aminopeptidase P, AT2, Angiotensin II, B19V, Parvovirus B19, BMD, Bone mineral density, BVDV, Bovine viral diarrhea virus, C1, First component of the complement cascade, C1-INH, C1 esterase inhibitor, C1nh, Murine C1 esterase inhibitor gene, C1NH, Human C1 esterase inhibitor gene, C2, Second component of the complement cascade, C3, Third component of the complement cascade, C4, Fourth component of the complement cascade, C5, Fifth component of the complement cascade, CCM, Chemical cleavage of mismatches, CH50, Total hemolytic complement, 50% cell lysis, Cmax, Maximum concentration, CPMP, Committee for Proprietary Medicinal Products, CPV, Canine parvovirus, DHPLC, Denaturing HPLC, FF, (Ovarian) follicular fluid, FFP, Fresh frozen plasma, HAE, Hereditary angioedema, HAE-I, Hereditary angioedema type I, HAE-II, Hereditary angioedema type II, HAEA, US HAE Association, HAV, Hepatitis A virus, HbsAg, Hepatitis B surface antigen, HBV, Hepatitis B virus, HCV, Hepatitis C virus, HK, High molecular weight kininogen, HRT, Hormone replacement therapy, HUVS, Hypocomplementemic urticaria-vasculitis syndrome, LH, Luteinizing hormone, MASP, Mannose-binding protein associated serine protease, MBL, Mannan-binding lectin, MFO, Multifollicular ovary, MGUS, Monoclonal gammopathies of undetermined significance, Mr, Molecular mass, NAT, Nucleic acid amplification technique, NEP, Neutral endopeptidase, OC, Oral contraceptive, OMIM, Online Mendelian Inheritance in Man (database), PCO, Polycystic ovary, PCT, Primary care trust, PREHAEAT, Novel Methods for Predicting, Preventing, and Treating Attacks in Patients with Hereditary Angioedema , PRV, Pseudorabies virus, rhC1-INH, Recombinant human C1 esterase inhibitor, rtPA, Recombinant tissue-type plasminogen activator, SHBG, Sex hormone binding globulin, SSCA, Single-stranded conformational analysis, tPA, Tissue-type plasminogen activator, UK, United Kingdom

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          Abstract

          Hereditary angioedema (HAE), a rare but life-threatening condition, manifests as acute attacks of facial, laryngeal, genital, or peripheral swelling or abdominal pain secondary to intra-abdominal edema. Resulting from mutations affecting C1 esterase inhibitor (C1-INH), inhibitor of the first complement system component, attacks are not histamine-mediated and do not respond to antihistamines or corticosteroids. Low awareness and resemblance to other disorders often delay diagnosis; despite availability of C1-INH replacement in some countries, no approved, safe acute attack therapy exists in the United States. The biennial C1 Esterase Inhibitor Deficiency Workshops resulted from a European initiative for better knowledge and treatment of HAE and related diseases. This supplement contains work presented at the third workshop and expanded content toward a definitive picture of angioedema in the absence of allergy. Most notably, it includes cumulative genetic investigations; multinational laboratory diagnosis recommendations; current pathogenesis hypotheses; suggested prophylaxis and acute attack treatment, including home treatment; future treatment options; and analysis of patient subpopulations, including pediatric patients and patients whose angioedema worsened during pregnancy or hormone administration. Causes and management of acquired angioedema and a new type of angioedema with normal C1-INH are also discussed. Collaborative patient and physician efforts, crucial in rare diseases, are emphasized. This supplement seeks to raise awareness and aid diagnosis of HAE, optimize treatment for all patients, and provide a platform for further research in this rare, partially understood disorder.

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          Most cited references 432

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          A novel coronavirus associated with severe acute respiratory syndrome.

          A worldwide outbreak of severe acute respiratory syndrome (SARS) has been associated with exposures originating from a single ill health care worker from Guangdong Province, China. We conducted studies to identify the etiologic agent of this outbreak. We received clinical specimens from patients in seven countries and tested them, using virus-isolation techniques, electron-microscopical and histologic studies, and molecular and serologic assays, in an attempt to identify a wide range of potential pathogens. None of the previously described respiratory pathogens were consistently identified. However, a novel coronavirus was isolated from patients who met the case definition of SARS. Cytopathological features were noted in Vero E6 cells inoculated with a throat-swab specimen. Electron-microscopical examination revealed ultrastructural features characteristic of coronaviruses. Immunohistochemical and immunofluorescence staining revealed reactivity with group I coronavirus polyclonal antibodies. Consensus coronavirus primers designed to amplify a fragment of the polymerase gene by reverse transcription-polymerase chain reaction (RT-PCR) were used to obtain a sequence that clearly identified the isolate as a unique coronavirus only distantly related to previously sequenced coronaviruses. With specific diagnostic RT-PCR primers we identified several identical nucleotide sequences in 12 patients from several locations, a finding consistent with a point-source outbreak. Indirect fluorescence antibody tests and enzyme-linked immunosorbent assays made with the new isolate have been used to demonstrate a virus-specific serologic response. This virus may never before have circulated in the U.S. population. A novel coronavirus is associated with this outbreak, and the evidence indicates that this virus has an etiologic role in SARS. Because of the death of Dr. Carlo Urbani, we propose that our first isolate be named the Urbani strain of SARS-associated coronavirus. Copyright 2003 Massachusetts Medical Society
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            Plasma bradykinin in angio-oedema.

            Bradykinin is believed to be the main mediator of symptoms in hereditary (HA) and acquired (AA) angio-oedema due to C1 esterase inhibitor deficiency, as well as in angio-oedema that complicates treatment with inhibitors of angiotensin-converting enzyme (ACE). Difficulties in the measurement of kinin concentrations, however, have so far precluded the demonstration of an incontrovertible change in plasma bradykinin concentrations in these disorders. By developing a reliable assay we have been able to follow bradykinin concentrations during attacks and during remission in HA and in AA, and also in a patient treated with an ACE-inhibitor. Liquid-phase extraction, high-performance liquid chromatography, and RIA were used for specific measurement of plasma bradykinin concentrations in 22 patients with HA and in 22 healthy volunteers of similar age and sex distribution. Four patients with AA and one hypertensive patient treated with the ACE inhibitor captopril were also studied. Among the healthy volunteers plasma bradykinin concentration was inversely proportional to age. The geometric mean plasma bradykinin concentration in the healthy volunteers was 2.2 fmol/mL (SD 2.2), compared with 3.9 fmol/mL (3.7) among patients with HA during remission (p=0.095). Bradykinin was also high in the patients with AA (10.4 fmol/mL [1.6]). During acute attacks of oedema, in both HA and AA, plasma bradykinin rose to two to 12 times the upper limit of normal. Infusion of C1-esterase inhibitor (the deficient factor in both HA and AA) immediately lowered bradykinin concentrations. In the patient receiving the ACE-inhibitor captopril, bradykinin concentration was very high at 47 fmol/mL during an acute attack of angio-oedema, but normal at 3.2 fmol/mL in remission after withdrawal of the drug. A sensitive method for measurement of plasma bradykinin provided the means to show that concentrations of this peptide decrease with age in healthy people. Although the differences between patients in remission and healthy controls did not reach statistical significance, there were substantial rises in bradykinin during acute attacks of hereditary, acquired, or captopril-induced angio-oedema.
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              C-Reactive Protein Binds to Apoptotic Cells, Protects the Cells from Assembly of the Terminal Complement Components, and Sustains an Antiinflammatory Innate Immune Response

              C-reactive protein (CRP) is a serum protein that is massively induced as part of the innate immune response to infection and tissue injury. As CRP has been detected in damaged tissues and is known to activate complement, we assessed whether apoptotic lymphocytes bound CRP and determined the effect of binding on innate immunity. CRP bound to apoptotic cells in a Ca2+-dependent manner and augmented the classical pathway of complement activation but protected the cells from assembly of the terminal complement components. Furthermore, CRP enhanced opsonization and phagocytosis of apoptotic cells by macrophages associated with the expression of the antiinflammatory cytokine transforming growth factor β. The antiinflammatory effects of CRP required C1q and factor H and were not effective once cells had become necrotic. These observations demonstrate that CRP and the classical complement components act in concert to promote noninflammatory clearance of apoptotic cells and may help to explain how deficiencies of the classical pathway and certain pentraxins lead to impaired handling of apoptotic cells and increased necrosis with the likelihood of immune response to self.
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                Author and article information

                Journal
                J Allergy Clin Immunol
                J. Allergy Clin. Immunol
                The Journal of Allergy and Clinical Immunology
                American Academy of Allergy, Asthma and Immunology. Published by Mosby, Inc.
                0091-6749
                1097-6825
                11 September 2004
                September 2004
                11 September 2004
                : 114
                : 3
                : S51-S131
                Author notes
                [∗]

                Members of the PREHAEAT European Union network.

                Article
                S0091-6749(04)01757-9
                10.1016/j.jaci.2004.06.047
                7119155
                15356535
                Copyright © 2004 American Academy of Allergy, Asthma and Immunology. Published by Mosby, Inc. All rights reserved.

                Since January 2020 Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre - including this research content - immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

                Categories
                Article

                Immunology

                aae, acquired angioedema, angioedema, c1 esterase inhibitor, c1-inh, hae, hane, hano, hereditary angioedema, hereditary angioneurotic edema, angioneurotic edema, chemically induced angioedema, human serping1 protein, aae, acquired angioedema, aaee, (italian) voluntary association for the study, therapy, and fight against hereditary angioedema, ace, angiotensin-converting enzyme, app, aminopeptidase p, at2, angiotensin ii, b19v, parvovirus b19, bmd, bone mineral density, bvdv, bovine viral diarrhea virus, c1, first component of the complement cascade, c1-inh, c1 esterase inhibitor, c1nh, murine c1 esterase inhibitor gene, c1nh, human c1 esterase inhibitor gene, c2, second component of the complement cascade, c3, third component of the complement cascade, c4, fourth component of the complement cascade, c5, fifth component of the complement cascade, ccm, chemical cleavage of mismatches, ch50, total hemolytic complement, 50% cell lysis, cmax, maximum concentration, cpmp, committee for proprietary medicinal products, cpv, canine parvovirus, dhplc, denaturing hplc, ff, (ovarian) follicular fluid, ffp, fresh frozen plasma, hae, hereditary angioedema, hae-i, hereditary angioedema type i, hae-ii, hereditary angioedema type ii, haea, us hae association, hav, hepatitis a virus, hbsag, hepatitis b surface antigen, hbv, hepatitis b virus, hcv, hepatitis c virus, hk, high molecular weight kininogen, hrt, hormone replacement therapy, huvs, hypocomplementemic urticaria-vasculitis syndrome, lh, luteinizing hormone, masp, mannose-binding protein associated serine protease, mbl, mannan-binding lectin, mfo, multifollicular ovary, mgus, monoclonal gammopathies of undetermined significance, mr, molecular mass, nat, nucleic acid amplification technique, nep, neutral endopeptidase, oc, oral contraceptive, omim, online mendelian inheritance in man (database), pco, polycystic ovary, pct, primary care trust, prehaeat, novel methods for predicting, preventing, and treating attacks in patients with hereditary angioedema, prv, pseudorabies virus, rhc1-inh, recombinant human c1 esterase inhibitor, rtpa, recombinant tissue-type plasminogen activator, shbg, sex hormone binding globulin, ssca, single-stranded conformational analysis, tpa, tissue-type plasminogen activator, uk, united kingdom

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