Hereditary Angioedema: a Broad Review for Clinicians
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The Pathophysiology of Paroxysmal Nocturnal Haemoglobinuria.Pdf
The Pathophysiology of Paroxysmal Nocturnal Haemoglobinuria Richard John Kelly Submitted in accordance with the requirements for the degree of Doctor of Philosophy The University of Leeds School of Medicine January 2014 1 Jointly-Authored Publications The candidate confirms that the work submitted is his own, except where work which has formed part of jointly authored publications has been included. The contribution of the candidate and the other authors to this work has been explicitly indicated below. The candidate confirms that appropriate credit has been given within the thesis where reference has been made to the work of others. The work in Chapter 3 of the thesis has appeared in publication as follows: Kelly RJ, Hill A, Arnold LM, Brooksbank GL, Richards SJ, Cullen M, Mitchell LD, Cohen DR, Gregory WM, Hillmen P. Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria: sustained efficacy and improved survival. Blood 2011;117:6786-6792. I was responsible for designing the study, collecting and analysing the data and writing the paper. Dena Cohen and Walter Gregory performed the statistical analysis. All the other authors reviewed the paper. The work in Chapter 4 of the thesis has appeared in publication as follows: Kelly R, Arnold L, Richards S, Hill A, Bomken C, Hanley J, Loughney A, Beauchamp J, Khursigara G, Rother RP, Chalmers E, Fyfe A, Fitzsimons E, Nakamura R, Gaya A, Risitano AM, Schubert J, Norfolk D, Simpson N, Hillmen P. The management of pregnancy in paroxysmal nocturnal haemoglobinuria on long term eculizumab. Br J Haematol 2010;149:446-450. I was responsible for designing the study, collecting and analysing the data and writing the paper. -
The Membrane Complement Regulatory Protein CD59 and Its Association with Rheumatoid Arthritis and Systemic Lupus Erythematosus
Current Medicine Research and Practice 9 (2019) 182e188 Contents lists available at ScienceDirect Current Medicine Research and Practice journal homepage: www.elsevier.com/locate/cmrp Review Article The membrane complement regulatory protein CD59 and its association with rheumatoid arthritis and systemic lupus erythematosus * Nibhriti Das a, Devyani Anand a, Bintili Biswas b, Deepa Kumari c, Monika Gandhi c, a Department of Biochemistry, All India Institute of Medical Sciences, New Delhi 110029, India b Department of Zoology, Ramjas College, University of Delhi, India c University School of Biotechnology, Guru Gobind Singh Indraprastha University, India article info abstract Article history: The complement cascade consisting of about 50 soluble and cell surface proteins is activated in auto- Received 8 May 2019 immune inflammatory disorders. This contributes to the pathological manifestations in these diseases. In Accepted 30 July 2019 normal health, the soluble and membrane complement regulatory proteins protect the host against Available online 5 August 2019 complement-mediated self-tissue injury by controlling the extent of complement activation within the desired limits for the host's benefit. CD59 is a membrane complement regulatory protein that inhibits the Keywords: formation of the terminal complement complex or membrane attack complex (C5b6789n) which is CD59 generated on complement activation by any of the three pathways, namely, the classical, alternative, and RA SLE the mannose-binding lectin pathway. Animal experiments and human studies have suggested impor- Pathophysiology tance of membrane complement proteins including CD59 in the pathophysiology of rheumatoid arthritis Disease marker (RA) and systemic lupus erythematosus (SLE). Here is a brief review on CD59 and its distribution, structure, functions, and association with RA and SLE starting with a brief introduction on the com- plement system, its activation, the biological functions, and relations of membrane complement regu- latory proteins, especially CD59, with RA and SLE. -
More Than a Pore: Nonlytic Antimicrobial Functions of Downloaded from Complement and Bacterial Strategies for Evasion
REVIEW More than a Pore: Nonlytic Antimicrobial Functions of Downloaded from Complement and Bacterial Strategies for Evasion Elisabet Bjanes,a Victor Nizeta,b aDivision of Host-Microbe Systems and Therapeutics, Department of Pediatrics, UC San Diego, La Jolla, California, USA bSkaggs School of Pharmacy and Pharmaceutical Sciences, UC San Diego, La Jolla, California, USA http://mmbr.asm.org/ SUMMARY ........................................................................1 INTRODUCTION ...................................................................2 BY THE BOOK: CANONICAL COMPLEMENT CASCADES ...............................2 Off to the Races—Pathway Activation . 2 More and More—Amplification . 3 End of the Line—Termination . 3 Pump the Brakes—Inhibition . 5 Surviving MAC Attack—Evasion of Complement Lysis by Gram-Negative Bacteria . 6 NONLYTIC COMPLEMENT FUNCTIONS AND BACTERIAL EVASION MECHANISMS ......8 Special Considerations in Gram-Positive Bacteria . 8 on January 27, 2021 at UNIV OF CALIF SAN DIEGO Preparing the Meal—Complement Aids Opsonization and Phagocytosis . 8 Food for Thought—Complement Traffics to Autophagy . 10 Fueling the Fire—Complement Modulates Inflammatory Responses . 11 Casting a Wider NET—Complement and Neutrophil Synergy . 12 Inside Scoop—Novel Roles of Intracellular Complement . 13 Tying the Clot—Complement and Coagulation Cross Talk . 15 Bridging the Gap—Complement Instructs Adaptive Immunity . 17 REFRAMING SCIENTIFIC PARADIGMS AND THERAPEUTIC APPROACHES TO ENCOMPASS COMPLEMENT ..................................................18 -
Plasma Contact System Activation Drives Anaphylaxis in Severe Mast Cell–Mediated Allergic Reactions
Plasma contact system activation drives anaphylaxis in severe mast cell–mediated allergic reactions Anna Sala-Cunill, MD, PhD,a,b,c Jenny Bjorkqvist,€ MSc,c,d Riccardo Senter, MD,c,e Mar Guilarte, MD, PhD,a,b Victoria Cardona, MD, PhD,a,b Moises Labrador, MD, PhD,a,b Katrin F. Nickel, PhD,c,d,f Lynn Butler, PhD,c,d,f Olga Luengo, MD, PhD,a,b Parvin Kumar, MSc,c,d Linda Labberton, MSc,c,d Andy Long, PhD,f Antonio Di Gennaro, PhD,c,d Ellinor Kenne, PhD,c,d Anne Jams€ a,€ PhD,c,d Thorsten Krieger, MD,f Hartmut Schluter,€ PhD,f Tobias Fuchs, PhD,c,d,f Stefanie Flohr, PhD,g Ulrich Hassiepen, PhD,g Frederic Cumin, PhD,g Keith McCrae, MD,h Coen Maas, PhD,i Evi Stavrou, MD,j and Thomas Renne, MD, PhDc,d,f Barcelona, Spain, Stockholm, Sweden, Padua, Italy, Hamburg, Germany, Basel, Switzerland, Cleveland, Ohio, and Utrecht, The Netherlands Background: Anaphylaxis is an acute, potentially lethal, hypotension. Activated mast cells systemically released heparin, multisystem syndrome resulting from the sudden release of mast which provided a negatively charged surface for factor XII cell–derived mediators into the circulation. autoactivation. Activated factor XII generates plasma Objectives and Methods: We report here that a plasma protease kallikrein, which proteolyzes kininogen, leading to the cascade, the factor XII–driven contact system, critically liberation of bradykinin. We evaluated the contact system in contributes to the pathogenesis of anaphylaxis in both murine patients with anaphylaxis. In all 10 plasma samples models and human subjects. immunoblotting revealed activation of factor XII, plasma Results: Deficiency in or pharmacologic inhibition of factor XII, kallikrein, and kininogen during the acute phase of anaphylaxis plasma kallikrein, high-molecular-weight kininogen, or the but not at basal conditions or in healthy control subjects. -
First Aid Management of Accidental Hypothermia and Cold Injuries - an Update of the Australian Resuscitation Council Guidelines
First Aid Management of Accidental Hypothermia and Cold Injuries - an update of the Australian Resuscitation Council Guidelines Dr Rowena Christiansen ARC Representative Member Chair, Australian Ski Patrol Medical Advisory Committee All images are used solely for the purposes of education and information. Image credits may be found at the end of the presentation. 1 Affiliations • Medical Educator, University of Melbourne Medical • Chair, Associate Fellows Group, School Aerospace Medical Association • Director, Mars Society Australia • Board Member and SiG member, WADEM • Chair, Australian Ski Patrol Association Medical Advisory Committee • Inaugural Treasurer, Australasian Wilderness • Honorary Medical Officer, Mt Baw Baw Ski Patrol and Expedition Medicine Society (Victoria, Australia) • Member, Space Life Sciences Sub-Committee of • Representative Member, Australian Resuscitation Council the Australasian Society for Aerospace Medicine 2 Background • Australian Resuscitation Council (“ARC”) Guideline 9.3.3 “Hypothermia: First Aid Management” was published in February 2009; • Guideline 9.3.6 “Cold Injury” was published in March 2000; • A review of these Guidelines has been undertaken by the ARC First Aid task- force based on combination of a focused literature review and expert opinion (including from Australian surf life-saving and ski patrol organisations and the International Commission for Mountain Emergency Medicine (the Medical Commission of the International Commission on Alpine Rescue - “ICAR MEDCOM”); and • It is intended to publish the revised Guidelines as a jointly-badged product of the Australian and New Zealand Committee on Resuscitation (“ANZCOR”). 3 Defining the scope of the Guidelines • The scope of practice: • The ‘pre-hospital’ or ‘out-of-hospital’ setting. • Who does this guideline apply to? • This guideline applies to adult and child victims. -
Comprehensive Genetic Testing for Primary Immunodeficiency
Woon and Ameratunga Allergy Asthma Clin Immunol (2016) 12:65 Allergy, Asthma & Clinical Immunology DOI 10.1186/s13223-016-0169-2 RESEARCH Open Access Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10‑year experience in Auckland, New Zealand See‑Tarn Woon and Rohan Ameratunga* Abstract Background and purpose: New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). Methods: Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014. Results: We undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobu‑ linemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity. Conclusions: Thorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next genera‑ tion sequencing will play an increasing role in disorders with locus heterogeneity. -
Are Complement Deficiencies Really Rare?
G Model MIMM-4432; No. of Pages 8 ARTICLE IN PRESS Molecular Immunology xxx (2014) xxx–xxx Contents lists available at ScienceDirect Molecular Immunology j ournal homepage: www.elsevier.com/locate/molimm Review Are complement deficiencies really rare? Overview on prevalence, ଝ clinical importance and modern diagnostic approach a,∗ b Anete Sevciovic Grumach , Michael Kirschfink a Faculty of Medicine ABC, Santo Andre, SP, Brazil b Institute of Immunology, University of Heidelberg, Heidelberg, Germany a r a t b i c s t l e i n f o r a c t Article history: Complement deficiencies comprise between 1 and 10% of all primary immunodeficiencies (PIDs) accord- Received 29 May 2014 ing to national and supranational registries. They are still considered rare and even of less clinical Received in revised form 18 June 2014 importance. This not only reflects (as in all PIDs) a great lack of awareness among clinicians and gen- Accepted 23 June 2014 eral practitioners but is also due to the fact that only few centers worldwide provide a comprehensive Available online xxx laboratory complement analysis. To enable early identification, our aim is to present warning signs for complement deficiencies and recommendations for diagnostic approach. The genetic deficiency of any Keywords: early component of the classical pathway (C1q, C1r/s, C2, C4) is often associated with autoimmune dis- Complement deficiencies eases whereas individuals, deficient of properdin or of the terminal pathway components (C5 to C9), are Warning signs Prevalence highly susceptible to meningococcal disease. Deficiency of C1 Inhibitor (hereditary angioedema, HAE) Meningitis results in episodic angioedema, which in a considerable number of patients with identical symptoms Infections also occurs in factor XII mutations. -
Regulation of Decay Accelerating Factor Primes Human Germinal Center B Cells for Phagocytosis
ORIGINAL RESEARCH published: 05 January 2021 doi: 10.3389/fimmu.2020.599647 Regulation of Decay Accelerating Factor Primes Human Germinal Center B Cells for Phagocytosis Andy Dernstedt 1, Jana Leidig 1, Anna Holm 2, Priscilla F. Kerkman 1, Jenny Mjösberg 3, Clas Ahlm 1, Johan Henriksson 4, Magnus Hultdin 5 and Mattias N. E. Forsell 1* 1 Department of Clinical Microbiology, Section of Infection and Immunology, Umeå University, Umeå, Sweden, 2 Department of Clinical Sciences, Division of Otorhinolaryngology, Umeå University, Umeå, Sweden, 3 Center for Infectious Medicine, Department of Medicine, Karolinska Institutet, Stockholm, Sweden, 4 Molecular Infection Medicine Sweden, Department of Molecular Biology, Umeå University, Umeå, Sweden, 5 Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden Germinal centers (GC) are sites for extensive B cell proliferation and homeostasis is maintained by programmed cell death. The complement regulatory protein Decay Edited by: Accelerating Factor (DAF) blocks complement deposition on host cells and therefore Judith Fraussen, also phagocytosis of cells. Here, we show that B cells downregulate DAF upon BCR University of Hasselt, Belgium lo Reviewed by: engagement and that T cell-dependent stimuli preferentially led to activation of DAF B lo Paolo Casali, cells. Consistent with this, a majority of light and dark zone GC B cells were DAF and University of Texas Health Science susceptible to complement-dependent phagocytosis, as compared with DAFhi GC B Center at San Antonio, United States hi Shengli Xu, cells. We could also show that the DAF GC B cell subset had increased expression of the Bioprocessing Technology Institute plasma cell marker Blimp-1. -
LP Review Published.Pdf
Molecular Immunology 56 (2013) 413–422 Contents lists available at SciVerse ScienceDirect Molecular Immunology jo urnal homepage: www.elsevier.com/locate/molimm Review Toward a structure-based comprehension of the lectin pathway of complement a a b,∗ Troels R. Kjaer , Steffen Thiel , Gregers R. Andersen a Department of Biomedicine, Aarhus University, Wilhelm Meyers Allé 4, DK-8000 Aarhus, Denmark b Department of Molecular Biology and Genetics, Aarhus University, Gustav Wieds Vej 10C, DK-8000 Aarhus, Denmark a r t a b i c l e i n f o s t r a c t Article history: To initiate the lectin pathway of complement pattern recognition molecules bind to surface-linked car- Received 2 May 2013 bohydrates or acetyl groups on pathogens or damaged self-tissue. This leads to activation of the serine Accepted 14 May 2013 proteases MASP-1 and MASP-2 resulting in deposition of C4 on the activator and assembly of the C3 convertase. In addition MASP-3 and the non-catalytic MAp19 and MAp44 presumably play regulatory Keywords: functions, but the exact function of the MASP-3 protease remains to be established. Recent functional Complement system studies have significantly advanced our understanding of the molecular events occurring as activation Pattern recognition progresses from pattern recognition to convertase assembly. Furthermore, atomic structures derived MBL MASP by crystallography or solution scattering of most proteins acting in the lectin pathway and two key complexes have become available. Here we integrate the current functional and structural knowledge Protease activation C4 concerning the lectin pathway proteins and derive overall models for their glycan bound complexes. -
The Use of Radiotherapy in Hereditary Angioedema Type 1- C1 Inhibitor Deficiency
Avances en Biomedicina ISSN: 2477-9369 ISSN: 2244-7881 [email protected] Universidad de los Andes Venezuela The use of radiotherapy in Hereditary Angioedema Type 1- C1 Inhibitor deficiency Lara de la Rosa, María del Pilar; Conde Alcañiz, Amparo; Moreno Ramírez, David; Illescas Vacas, Ana; Guardia Martínez, Pedro The use of radiotherapy in Hereditary Angioedema Type 1- C1 Inhibitor deficiency Avances en Biomedicina, vol. 7, no. 2, 2018 Universidad de los Andes, Venezuela Available in: https://www.redalyc.org/articulo.oa?id=331359393006 PDF generated from XML JATS4R by Redalyc Project academic non-profit, developed under the open access initiative Casos Clínicos e use of radiotherapy in Hereditary Angioedema Type 1- C1 Inhibitor deficiency Uso de radioterapia en Angioedema hereditario por déficit de C1 inhibidor tipo I María del Pilar Lara de la Rosa [email protected] University Hospital Virgen Macarena, España Amparo Conde Alcañiz University Hospital Virgen Macarena, España David Moreno Ramírez University Hospital Virgen Macarena, España Ana Illescas Vacas University Hospital Virgen Macarena, España Pedro Guardia Martínez University Hospital Virgen Macarena, España Avances en Biomedicina, vol. 7, no. 2, 2018 Universidad de los Andes, Venezuela Received: 27 February 2018 Accepted: 21 June 2018 Abstract: We present a clinical case of a 72 year old man with Hereditary Angioedema Type 1. It´s a rare, potentially fatal disease, especially due to causing episodes of Redalyc: https://www.redalyc.org/ laryngeal angioedema. He has a past medical history of lip squamous-cell skin cancer, articulo.oa?id=331359393006 which is currently relapsing, with lateral margins of the surgical resection affected requiring treatment with local radiotherapy. -
Practice Parameter for the Diagnosis and Management of Primary Immunodeficiency
Practice parameter Practice parameter for the diagnosis and management of primary immunodeficiency Francisco A. Bonilla, MD, PhD, David A. Khan, MD, Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD, David I. Bernstein, MD, Joann Blessing-Moore, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Chief Editor: Francisco A. Bonilla, MD, PhD Co-Editor: David A. Khan, MD Members of the Joint Task Force on Practice Parameters: David I. Bernstein, MD, Joann Blessing-Moore, MD, David Khan, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Primary Immunodeficiency Workgroup: Chairman: Francisco A. Bonilla, MD, PhD Members: Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD GlaxoSmithKline, Merck, and Aerocrine; has received payment for lectures from Genentech/ These parameters were developed by the Joint Task Force on Practice Parameters, representing Novartis, GlaxoSmithKline, and Merck; and has received research support from Genentech/ the American Academy of Allergy, Asthma & Immunology; the American College of Novartis and Merck. -
Allergy, Hypersensitivity, Angioedema, and Anaphylaxis Episode Overview
CrackCast Show Notes –Allergy and Anaphylaxis – October 2017 www.canadiem.org/crackcast Chapter 109 – Allergy, Hypersensitivity, Angioedema, and Anaphylaxis Episode Overview Key Points: 1. A history of sudden urticarial rash accompanied by respiratory difficulty, abdominal pain, or hypotension, strongly favors the diagnosis of anaphylaxis. 2. Epinephrine is the first-line treatment in patients with anaphylaxis: give it immediately. 3. There are no absolute contraindications to the use of epinephrine in the setting of anaphylaxis. 4. Antihistamines and corticosteroids are second- and third-line agents in the management of anaphylaxis and should not replace or precede epinephrine. 5. Consider prolonged observation or admission for patients who: a. Experience protracted anaphylaxis, hypotension, or airway involvement; b. Receive IV epinephrine or more than two doses of IM epinephrine; c. Or have poor outpatient social support. 6. Patients discharged after an anaphylactic event should be prescribed an EpiPen and instructed on its use. 7. Patients with refractory hypotension may require glucagon (receiving beta-blockage) or a continuous IV epinephrine infusion. 8. Non-histaminergic angioedema (non-allergic angioedema) does not typically respond to epinephrine and antihistamines. New drugs, including berinert, icatibant, ecallantide, and Ruconest have been approved for use in HAE. FFP has been used with varying success in HAE, ACID, and ACE inhibitor–induced angioedema. NOTE: ACID: acquired C1 esterase deficiency (ACED) Core Questions: 1. List the four types of Gell and Coombs classifications of immune reaction and give examples of each 2. List four etiologic agents causing anaphylaxis by immunologic mechanisms 3. List six mediators of anaphylaxis and their physiologic actions and clinical manifestations 4.