2,690 results match your criteria Complement Deficiencies


Systems Pharmacology and Docking Analysis Uncover Association of CA2, PPARG, RXRA, and VDR with the Mechanisms Underlying the Shi Zhen Tea Formula Effect on Eczema.

Evid Based Complement Alternat Med 2021 13;2021:8406127. Epub 2021 May 13.

Department of Microbiology & Immunology, New York Medical College, New York 10595, USA.

Eczema is a complex chronic inflammatory skin disease impacted by environmental factors, infections, immune disorders, and deficiencies in skin barrier function. Shi Zhen Tea (SZT), derived from traditional Chinese medicine Xiao-Feng-San, has shown to be an effective integrative therapy for treating skin lesions, itching, and sleeping loss, and it facilitates reduction of topical steroid and antihistamine use in pediatric and adult patients with severe eczema. Yet, its active compounds and therapeutic mechanisms have not been elucidated. Read More

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Strengthening the immunity of the Swiss population with micronutrients: A narrative review and call for action.

Clin Nutr ESPEN 2021 06 24;43:39-48. Epub 2021 Mar 24.

Department of Internal Medicine, University Medical Center Groningen, Groningen, the Netherlands. Electronic address:

Background: The enormous health impact of the COVID-19 pandemic has refocused attention on measures to optimize immune function and vaccine response. Dietary deficiencies of micronutrients can weaken adaptive immunity. The aim of this review was to examine links between micronutrients, immune function and COVID-19 infection, with a focus on nutritional risks in subgroups of the Swiss population. Read More

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Membrane cofactor protein (MCP; CD46): deficiency states and pathogen connections.

Curr Opin Immunol 2021 May 15;72:126-134. Epub 2021 May 15.

Division of Rheumatology, Department of Medicine, Washington University School of Medicine, Saint Louis, MO, 63110, USA. Electronic address:

Membrane cofactor protein (MCP; CD46), a ubiquitously expressed complement regulatory protein, serves as a cofactor for serine protease factor I to cleave and inactivate C3b and C4b deposited on host cells. However, CD46 also plays roles in human reproduction, autophagy, modulating T cell activation and effector functions and is a member of the newly identified intracellular complement system (complosome). CD46 also is a receptor for 11 pathogens ('pathogen magnet'). Read More

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A novel homozygous variant in causes severe IUGR, edema, and cardiomyopathy in two fetuses.

JIMD Rep 2021 May 5;59(1):20-25. Epub 2021 Mar 5.

Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.

The C1QBP protein (complement component 1 Q subcomponent-binding protein), encoded by the C1QBP gene, is a multifunctional protein predominantly localized in the mitochondrial matrix. Biallelic variants have previously been shown to give rise to combined respiratory-chain deficiencies with variable phenotypic presentation, severity, and age at onset, from intrauterine with a mostly lethal course, to a late-onset mild myopathy. We present two fetuses, one male and one female, of first-cousin parents, with severe intrauterine growth retardation, oligo/anhydramnios, edema, and cardiomyopathy as the most prominent prenatal symptoms. Read More

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Complement testing in the clinical laboratory.

Crit Rev Clin Lab Sci 2021 May 7:1-51. Epub 2021 May 7.

Exsera Biolabs, Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USA.

The complement system is the human's first line of defense against microbial pathogens because of its important housekeeping and infection/inflammation roles. It is composed of a series of soluble and cell-bound proteins that are activated in a cascade effect, similar to the coagulation pathways. There are different pattern recognizing molecules that activate the complement system in response to stimuli or threats, acting through three initiation pathways: classical, lectin, and alternative. Read More

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Diagnostic and Predictive Contribution of Autoantibodies Screening in a Large Series of Patients With Primary Immunodeficiencies.

Front Immunol 2021 1;12:665322. Epub 2021 Apr 1.

Department of Pediatrics, El-Harrach Hospital, Algiers Faculty of Medicine, University of Algiers 1, Algiers, Algeria.

Objectives: To evaluate the diagnostic and predictive contribution of autoantibodies screening in patients with primary immunodeficiencies (PIDs).

Methods: In the present study, PID patients and healthy controls have been screened for 54 different autoantibodies. The results of autoantibodies screening in PID patients were correlated to the presence of autoimmune diseases. Read More

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Hereditary angioedema: how to approach it at the emergency department?

Einstein (Sao Paulo) 2021 9;19:eRW5498. Epub 2021 Apr 9.

Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.

Angioedema attacks are common causes of emergency care, and due to the potential for severity, it is important that professionals who work in these services know their causes and management. The mechanisms involved in angioedema without urticaria may be histamine- or bradykinin-mediated. The most common causes of histamine-mediated angioedema are foods, medications, insect sting and idiopathic. Read More

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Analysis of Heart-Rate Variability during Angioedema Attacks in Patients with Hereditary C1-Inhibitor Deficiency.

Int J Environ Res Public Health 2021 03 12;18(6). Epub 2021 Mar 12.

Department of Medicine, IRCCS Istituti Clinici Scientifici Maugeri, 20138 Milan, Italy.

C1-inhibitor hereditary angioedema (C1-INH-HAE) is a rare disease characterized by self-limiting edema associated with localized vasodilation due to increased levels of circulating bradykinin. C1-INH-HAE directly influences patients' everyday lives, as attacks are unpredictable in frequency, severity, and the involved anatomical site. The autonomic nervous system could be involved in remission. Read More

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Novel Peptide-Based Magnetic Nanoparticle for Mesenchymal Circulating Tumor Cells Detection.

Anal Chem 2021 04 31;93(14):5670-5675. Epub 2021 Mar 31.

CAS Key Laboratory of Standardization and Measurement for Nanotechnology, CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, Beijing 100190, China.

The monitoring of circulating tumor cells (CTCs) has recently served as a promising approach for assessing prognosis and evaluating cancer treatment. We have already developed a CTCs enrichment platform by EpCAM recognition peptide-functionalized magnetic nanoparticles ([email protected]). However, considering heterogeneous CTCs generated through epithelial-mesenchymal transition (EMT), mesenchymal CTCs would be missed with this method. Read More

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Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants: A case report.

Medicine (Baltimore) 2021 Apr;100(13):e25265

Department of General Medicine.

Rationale: Complement deficiency are known to be predisposed to disseminated gonococcal infection (DGI). We herein present a case of DGI involving a Japanese man who latently had a complement 7 deficiency with compound heterozygous variants.

Patient Concerns: A previously healthy 51-year-old Japanese man complained of sudden-onset high fever. Read More

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Rehabilitation Approach for a Child with Cerebral Palsy and Upper Limb Deficiency.

Prog Rehabil Med 2021 18;6:20210016. Epub 2021 Mar 18.

Department of Rehabilitation Medicine, The University of Tokyo Hospital, Tokyo, Japan.

Background: Congenital limb deficiency is a rare and intractable anomaly of the limbs; however, prostheses can partially complement the motor function and appearance of the missing limbs. The first prosthesis is usually prescribed for children with upper limb deficiencies at approximately 6-8 months of age. In affected children with additional problems associated with motor function, such as limb paralysis, the age for initiating prosthetic therapy and the benefit of prostheses in promoting and expanding their motor function and activities is unknown. Read More

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Lanadelumab (Takhzyro) for prevention of hereditary angioedema.

Authors:

Med Lett Drugs Ther 2021 03 8;63(1619):e41-e42. Epub 2021 Mar 8.

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Systemic lupus erythematosus combined with primary hyperfibrinolysis and protein C and protein S deficiency: A case report.

World J Clin Cases 2021 Mar;9(8):2008-2014

Department of Hematology, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.

Background: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by systemic involvement and multiple autoantibodies in the serum. Patients with protein C (PC) and protein S (PS) deficiency are prone to thrombosis. In contrast, patients with primary hyperfibrino-lysis tend to bleed. Read More

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[Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level].

Ter Arkh 2020 Dec 15;92(12):86-90. Epub 2020 Dec 15.

Arkhangelsk Regional Clinical Hospital.

Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Read More

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December 2020

Complementation in of Porphyromonas gingivalis Lipopolysaccharide Biosynthetic Mutants Demonstrates Lipopolysaccharide Exchange.

J Bacteriol 2021 Apr 21;203(10). Epub 2021 Apr 21.

Oral Health CRC, Melbourne Dental School, Bio21 Institute, The University of Melbourne, Melbourne, Victoria, Australia

, a bacterial pathogen contributing to human periodontitis, exports and anchors cargo proteins to its surface, enabling the production of black pigmentation using a type IX secretion system (T9SS) and conjugation to anionic lipopolysaccharide (A-LPS). To determine whether T9SS components need to be assembled for correct secretion and A-LPS modification of cargo proteins, combinations of nonpigmented mutants lacking A-LPS or a T9SS component were mixed to investigate in complementation. Reacquisition of pigmentation occurred only between an A-LPS mutant and a T9SS mutant, which coincided with A-LPS modification of cargo proteins detected by Western blotting and coimmunoprecipitation/quantitative mass spectrometry. Read More

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Use of Flow Cytometry to Evaluate Phagocytosis of by Human Neutrophils.

Front Immunol 2021 19;12:635825. Epub 2021 Feb 19.

Medical Microbiology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

Neutrophils play a key role in the human immune response to infections. These professional phagocytes rapidly migrate to the site of infection to engulf bacteria and destroy them specialized intracellular killing mechanisms. Here we describe a robust and relatively high-throughput flow cytometry assay to quantify phagocytosis of by human neutrophils. Read More

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February 2021

Assessing Resident Diagnostic Skills Using a Modified Bronchiolitis Score.

Pediatr Oncall 2021 Jan-Mar;18(1):11-16

San Juan City Hospital, Emergency Department, San Juan, Puerto Rico.

Background: Resident milestones are objective instruments that assess the resident's growth, progression in knowledge, and clinical diagnostic reasoning; but they rely on the subjective appraisal of the supervising attending. Little is known about the use of standardized instruments that may complement the evaluation of resident diagnostic skills in the academic setting.

Objectives: Evaluate a modified bronchiolitis severity assessment tool by appraising the inter-rater variability and reliability between pediatric attendings and pediatric residents. Read More

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Schizophrenia: Complement Cleaning or Killing.

Genes (Basel) 2021 Feb 11;12(2). Epub 2021 Feb 11.

Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

Schizophrenia is a psychiatric disorder with a typical onset occurring during adolescence or young adulthood. The heterogeneity of the disorder complicates our understanding of the pathophysiology. Reduced cortical synaptic densities are commonly observed in schizophrenia and suggest a role for excessive synaptic elimination. Read More

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February 2021

Control of Hereditary Angioedema. Reply.

N Engl J Med 2021 02;384(5):e11

Amsterdam UMC, Amsterdam, the Netherlands

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February 2021

Control of Hereditary Angioedema.

Authors:
Chen Wang

N Engl J Med 2021 02;384(5):e11

University of South Florida Morsani College of Medicine, Tampa, FL

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February 2021

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.

Front Immunol 2020 14;11:602284. Epub 2021 Jan 14.

Complement Therapeutics Research Group, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

Membranoproliferative glomerulonephritis (MPGN), C3 glomerulopathy (C3G), atypical haemolytic uraemic syndrome (aHUS) and age-related macular degeneration (AMD) have all been strongly linked with dysfunction of the alternative pathway (AP) of complement. A significant proportion of individuals with MPGN, C3G, aHUS and AMD carry rare genetic variants in the gene that cause functional or quantitative deficiencies in the factor H (FH) protein, an important regulator of the AP. analysis of the deleteriousness of rare genetic variants in is not reliable and careful biochemical assessment remains the gold standard. Read More

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January 2021

Increased serum bactericidal activity of autologous serum in C2 deficiency after vaccination against Haemophilus influenzae type b, and further support for an MBL-dependent C2 bypass mechanism.

Vaccine 2021 02 25;39(8):1297-1302. Epub 2021 Jan 25.

Clinical Immunology and Transfusion Medicine, Region Skåne, Lund, Sweden; Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, Sweden. Electronic address:

Deficiencies of C2 and other components of the classical pathway of complement are associated with increased risk of infections with encapsulated bacteria, such as Haemophilus (H.) influenzae. Defense against H. Read More

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February 2021

More than a Pore: Nonlytic Antimicrobial Functions of Complement and Bacterial Strategies for Evasion.

Microbiol Mol Biol Rev 2021 02 27;85(1). Epub 2021 Jan 27.

Division of Host-Microbe Systems and Therapeutics, Department of Pediatrics, UC San Diego, La Jolla, California, USA

The complement system is an evolutionarily ancient defense mechanism against foreign substances. Consisting of three proteolytic activation pathways, complement converges on a common effector cascade terminating in the formation of a lytic pore on the target surface. The classical and lectin pathways are initiated by pattern recognition molecules binding to specific ligands, while the alternative pathway is constitutively active at low levels in circulation. Read More

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February 2021

Successful treatment with Cinryze® replacement therapy of a pregnant patient with hereditary angioedema: a case report.

J Med Case Rep 2021 Jan 24;15(1):20. Epub 2021 Jan 24.

School of Medicine, Josip Juraj Strossmayer University of Osijek J, Huttlera 4, 31000, Osijek, Croatia.

Background: Hereditary angioedema (HAE) is a rare disease characterized with recurrent swelling of subcutaneous or mucosal tissue that resolves in approximately 3 days. It can be presented with peripheral edema, abdominal and life-threatening laryngeal angioedema. A variety of triggers are known to cause episodes of angioedema including estrogen exposure. Read More

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January 2021

Quality of life in patients with hereditary angioedema in Canada.

Ann Allergy Asthma Immunol 2021 04 13;126(4):394-400.e3. Epub 2021 Jan 13.

Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; Division of Clinical Immunology and Allergy, Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.

Background: Hereditary angioedema (HAE) is associated with decreased quality of life (QoL), which has typically been measured using a generic non-disease-specific questionnaire.

Objective: We aimed to assess the QoL in patients with HAE type I and II in Canada using a previously validated HAE-specific questionnaire.

Methods: An online questionnaire was sent to the members of two Canadian HAE patient groups to collect data on demographics, HAE clinical course, and QoL scores. Read More

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Meningococcal Vaccination: Recommendations of the Advisory Committee on Immunization Practices, United States, 2020.

MMWR Recomm Rep 2020 09 25;69(9):1-41. Epub 2020 Sep 25.

This report compiles and summarizes all recommendations from CDC's Advisory Committee on Immunization Practices (ACIP) for use of meningococcal vaccines in the United States. As a comprehensive summary and update of previously published recommendations, it replaces all previously published reports and policy notes. This report also contains new recommendations for administration of booster doses of serogroup B meningococcal (MenB) vaccine for persons at increased risk for serogroup B meningococcal disease. Read More

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September 2020

Complement deficiencies.

Authors:
Marta Sobotková

Vnitr Lek 2020 ;66(6):346-352

Complement system plays a crucial role in innate imunity. Complement deficiencies are often associated with severe infections, usually meningoccocal, pneumococcal or caused by Haemophilus influenzae, or with autoimmune diseases, especially systemic lupus erythematodes. Inherited complement deficiencies are very rare although their prevalence in population may be underestimated due to lower availability of adequate laboratory testing. Read More

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January 2021

Craniofacial and Long Bone Development in the Context of Distraction Osteogenesis.

Plast Reconstr Surg 2021 01;147(1):54e-65e

From the Department of Surgery, Division of Plastic and Reconstructive Surgery, and the Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine.

Background: Bone retains regenerative potential into adulthood, and surgeons harness this plasticity during distraction osteogenesis. The underlying biology governing bone development, repair, and regeneration is divergent between the craniofacial and appendicular skeleton. Each type of bone formation is characterized by unique molecular signaling and cellular behavior. Read More

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January 2021

What is food-to-food fortification? A working definition and framework for evaluation of efficiency and implementation of best practices.

Compr Rev Food Sci Food Saf 2020 11 15;19(6):3618-3658. Epub 2020 Sep 15.

Plants for Human Health Institute, North Carolina State University, Kannapolis, North Carolina.

Food-to-food fortification (FtFF) is an emerging food-based strategy that can complement current strategies in the ongoing fight against micronutrient deficiencies, but it has not been defined or characterized. This review has proposed a working definition of FtFF. Comparison with other main food-based strategies clearly differentiates FtFF as an emerging strategy with the potential to address multiple micronutrient deficiencies simultaneously, with little dietary change required by consumers. Read More

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November 2020

Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Clin Transl Immunology 2020 9;9(12):e1225. Epub 2020 Dec 9.

Laboratory of Medical Immunology Department of Laboratory Medicine Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen The Netherlands.

Objectives: Complement deficiencies are difficult to diagnose because of the variability of symptoms and the complexity of the diagnostic process. Here, we applied a novel 'complementomics' approach to study the impact of various complement deficiencies on circulating complement levels.

Methods: Using a quantitative multiplex mass spectrometry assay, we analysed 44 peptides to profile 34 complement proteins simultaneously in 40 healthy controls and 83 individuals with a diagnosed deficiency or a potential pathogenic variant in 14 different complement proteins. Read More

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December 2020