2,998 results match your criteria Complement Deficiencies


Combined genetic deficiencies of the classical complement pathway are strongly associated with both systemic lupus erythematosus and primary Sjögren's syndrome.

Arthritis Rheumatol 2022 Jun 21. Epub 2022 Jun 21.

Center for Microbial Pathogenesis, The Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.

Objective: Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary Sjögren's syndrome (pSS) has not been studied systematically. Here we investigated heterozygous C2 deficiency and C4 copy number variation in relation to clinical manifestations in SLE and pSS.

Methods: The presence of the common 28-bp C2 deletion rs9332736 and C4 copy number variation was examined in Scandinavian patients diagnosed with SLE (n=958) or pSS (n=911), and 2,262 controls using DNA sequencing. Read More

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Hereditary angioedema in children and adolescents.

Allergol Immunopathol (Madr) 2022 7;50(S Pt 1):1-6. Epub 2022 Apr 7.

Clinical Immunology, Centro Universitario FMABC, Santo André, Brazil;

Hereditary angioedema is a genetic disease with autosomal dominant inheritance and, in most cases, caused by C1 inhibitor deficiency. Patients present with recurrent edema affecting sub-cutaneous and mucus membranes with variable onset and severity. More than 50% of patients may become symptomatic before 10 years of age. Read More

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The Genetic Landscape of Cutaneous Lupus Erythematosus.

Front Med (Lausanne) 2022 2;9:916011. Epub 2022 Jun 2.

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX, United States.

Cutaneous lupus erythematosus (CLE) is an autoimmune connective tissue disease that can exist as a disease entity or within the context of systemic lupus erythematosus (SLE). Over the years, efforts to elucidate the genetic underpinnings of CLE and SLE have yielded a wealth of information. This review examines prior studies investigating the genetics of CLE at the DNA and RNA level and identifies future research areas. Read More

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Moyamoya Disease Associated with a Deficiency of Complement Component 6.

J Stroke Cerebrovasc Dis 2022 Jun 16;31(8):106601. Epub 2022 Jun 16.

Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N14W5, Kita-Ku, Sapporo 060-8648, Japan.

Objectives: Complement component 6 (C6) deficiency is a very rare genetic defect that leads to significantly diminished synthesis, secretion, or function of C6. In the current report, we demonstrate a previously undescribed, homozygous missense mutation in exon 17 of the C6 gene (c.2545A>G p. Read More

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IL-1R/C3aR signaling regulates synaptic pruning in the prefrontal cortex of depression.

Cell Biosci 2022 Jun 17;12(1):90. Epub 2022 Jun 17.

Department of Chemical and Pharmaceutical Engineering, College of Chemical Engineering, Huaqiao University, Xiamen, 361021, Fujian province, People's Republic of China.

Background: Major depressive disorder is characterized by not only monoamine neurotransmitters deficiencies but also persistent neuroinflammation. The complement system is an attractive therapeutic target for various inflammation-related diseases due to its early activation in inflammatory processes.

Results: In the present study, the dynamic alteration of complement C3 and its receptor C3aR during the occurrence of depression and the mechanism of astrocyte-microglia IL-1R/C3/C3aR on synaptic pruning were investigated. Read More

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The symptom experience of hereditary angioedema (HAE) patients beyond HAE attacks: literature review and clinician interviews.

Orphanet J Rare Dis 2022 06 16;17(1):232. Epub 2022 Jun 16.

Evidera, 615 2nd Ave Ste 500, Seattle, WA, 98104, USA.

Background: Hereditary angioedema (HAE) is a genetic disorder characterized by re-occurring swelling episodes called "attacks," usually in the limbs, face, airways, and intestinal tract. New prophylactic therapies have reduced the frequency of these attacks. This study describes results from a literature review and clinician interviews assessing patient HAE symptom experiences and timing, and then evaluates whether existing patient-reported outcome (PRO) tools adequately reflect this experience. Read More

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[Recurrent meningococcal infection in a young woman witha mutation in the C8B gene].

Ugeskr Laeger 2022 Jun;184(23)

Pædiatrisk Afdeling, Sjællands Universitetshospital, Roskilde.

This is a case report of recurrent meningococcal infection in a young woman. She had no positive microbiological findings but was serologically diagnosed with the meningococcal antibody test. Investigation of the complement system showed no function of the terminal pathway. Read More

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The novel universal conformity index and unconformity index algorithms for radiotherapy treatment plans.

Med Dosim 2022 Jun 5. Epub 2022 Jun 5.

Radiation Oncology Department of Gulhane Medicine Faculty, Health Sciences University.

The purpose of the study is that introduce novel universal Conformity Index (CI) and Unconformity Index (UCIs) Algorithms that can be used for all radiotherapy treatment planning methods. The applicability of existing CIs has been reviewed and analyzed for each radiotherapy plan dose distribution. Novel CI and UCIs have been derived in this study to complement the calculation deficiencies. Read More

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Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis.

Case Reports Immunol 2022 23;2022:9057000. Epub 2022 May 23.

Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium.

The complement system is an essential part of our innate immune system. Three enzymatic activation pathways are described, all converging into a common terminal pathway which causes lysis of the target cell. Late complement deficiencies (LCDs) are typically diagnosed in children or adolescents with invasive meningococcal disease (IMD). Read More

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The yin and the yang of early classical pathway complement disorders.

Clin Exp Immunol 2022 Jun 1. Epub 2022 Jun 1.

Division of Allergy Immunology, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.

The classical pathway of the complement cascade has been recognized as a key activation arm, partnering with the lectin activation arm and the alternative pathway to cleave C3 and initiate the assembly of the terminal components. While deficiencies of classical pathway components have been recognized since 1966, only recently have gain-of-function variants been described for some of these proteins. Loss-of-function variants in C1, C4, and C2 are most often associated with lupus and systemic infections with encapsulated bacteria. Read More

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Benefits and Harms of Treatment and Preventive Interventions for Hereditary Angioedema: Protocol for a Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.

Genes (Basel) 2022 May 22;13(5). Epub 2022 May 22.

Pharmacoepidemiology and Statistics Research Center (PESRC), Chiang Mai University, Chiang Mai 50200, Thailand.

Background: Hereditary angioedema (HAE) is a rare genetic disease that can lead to potentially life-threatening airway attacks. Although novel therapies for HAE treatment have become available over the past decades, a comparison of all available treatments has not yet been conducted. As such, we will perform a systematic review and network meta-analysis to identify the best evidence-based treatments for the management of acute attacks and prophylaxis of HAE. Read More

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Expecting parents' perceptions of the digital parental support "childbirth journey" constructed as a serious game-an intervention study.

Digit Health 2022 Jan-Dec;8:20552076221097776. Epub 2022 May 16.

Research Group Family Centered Health (FamCeH), School of Health Sciences, University of Skövde, Skövde, Sweden.

Objective: The aim of this study was to explore expecting parents' perceptions of the Childbirth Journey as an intervention that includes medical information for parental support, constructed as a serious game.

Methods: In this qualitative study, semi-structured interviews were held with expecting parents in Sweden who were able to talk about specific parts of the Childbirth Journey they appreciated or found difficult to understand. A phenomenographic methodology was employed for data analysis. Read More

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Secondary Complement Deficiency Impairs Anti-Microbial Immunity to and During Severe Acute COVID-19.

Front Immunol 2022 27;13:841759. Epub 2022 Apr 27.

Department of Veterinary Medicine, School of Biological Sciences, University of Cambridge, Cambridge, United Kingdom.

A high incidence of secondary and infection were observed in patients with severe COVID-19. The cause of this predisposition to infection is unclear. Our data demonstrate consumption of complement in acute COVID-19 patients reflected by low levels of C3, C4, and loss of haemolytic activity. Read More

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C2 by-pass: Cross-talk between the complement classical and alternative pathways.

Immunobiology 2022 05 5;227(3):152225. Epub 2022 May 5.

School of Human Sciences, London Metropolitan University, UK; School of Life and Medical Sciences, University of Hertfordshire, UK. Electronic address:

Several disorders associated with the total or partial absence of components of the human complement system are known. Deficiencies of classical pathway (CP) components are generally linked to systemic lupus erythematosus (SLE) or SLE-like syndromes. However, only approximately one-third of patients who lack C2 show mild symptoms of SLE. Read More

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Impact of Fortified Infant Cereals on the Burden of Iron Deficiency Anemia in 6- to 23-Month-Old Indonesian Infants and Young Children: A Health Economic Simulation Model.

Int J Environ Res Public Health 2022 04 29;19(9). Epub 2022 Apr 29.

Nestle Nutrition Institute Indonesia, Jakarta 12520, Indonesia.

Iron deficiency and iron deficiency anemia (IDA) are highly prevalent among Indonesian infants and young children (IYC). Severe IDA hampers mental development in young children and is linked to lower quality of life and lower productivity as adults. The consumption of fortified infant cereals (FIC) increases iron intake during the weaning period, thus reducing the social burden of IDA. Read More

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Prophylactic therapy with subcutaneous C1-inhibitor is associated with sustained symptom control in patients with hereditary angioedema.

Allergy Asthma Proc 2022 05;43(3):202-208

Global Clinical Scientist Lead, Clinical Research TA Immunology, CSL Behring, King of Prussia, Pennsylvania.

Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency is a rare genetic disorder characterized by disabling episodes of edema that commonly affect the skin as well as the gastrointestinal tract and upper airway. Prophylactic therapy can decrease the severity and number of attacks. Long-term symptom control and rescue medication use were evaluated in patients with HAE who received subcutaneous (SC) C1-INH enrolled in an open-label extension (OLE) of the phase III COMPACT (Clinical Studies for Optimal Management of Preventing Angioedema with Low-Volume Subcutaneous C1-Inhibitor Replacement Therapy) trial, including a subgroup analysis of patients treated for ≥12 months. Read More

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Tolerance of bradykinin-releasing drugs in patients with acquired C1 inhibitor deficiency: a case series and review of the literature.

Eur J Dermatol 2022 02;32(1):49-55

CHU Lille, Département de Médecine Interne et Immunologie Clinique, F-59000 Lille, France, Centre de Référence des Angiœdèmes à Kinines, F-59000 Lille, France, University Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, F-59000 Lille, France, Inserm, F-59000 Lille, France.

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February 2022

Bradykinin formation by mutant plasminogen.

Authors:
Allen P Kaplan

Blood 2022 05;139(18):2732-2733

The Medical University of South Carolina.

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Evidence Quality Assessment of Tai Chi Exercise Intervention in Cognitive Impairment: An Overview of Systematic Review and Meta-Analysis.

Evid Based Complement Alternat Med 2022 25;2022:5872847. Epub 2022 Apr 25.

Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China.

Background: Tai Chi (TC) exercise has recently received wide attention for its efficacy in the management of cognitive impairment. The purpose of this overview is to summarize the available evidence on TC treatment of cognitive impairment and assess its quality.

Methods: We retrieved relevant systematic reviews/meta-analyses (SRs/MAs) from 7 databases from the time they were established to January 2, 2022. Read More

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Gold nanoparticles conjugated with anti-CD133 monoclonal antibody and 5-fluorouracil chemotherapeutic agent as nanocarriers for cancer cell targeting.

RSC Adv 2021 Apr 30;11(26):16131-16141. Epub 2021 Apr 30.

Department of Chemical Pathology, School of Medical Sciences, Universiti Sains Malaysia 16150 Kubang Kerian Kelantan Malaysia

The enhanced permeability and retention effect allows for passive targeting of solid tumours by nanoparticles carrying anticancer drugs. However, active targeting by incorporation of various ligands onto nanoparticles can provide for a more selective and enhanced chemotherapeutic effect and complement the deficiencies of the passive targeting approach. Here we report on the design of the carboxyl-terminated PEGylated gold nanoparticles (AuNPs), their functionalization with anti-CD133 monoclonal antibody (mAb) a crosslinking reaction, and subsequent 5-fluorouracil (5-FU) drug loading. Read More

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Dietary interventions for autism spectrum disorder: An updated systematic review of human studies.

Psychiatriki 2022 Apr 27. Epub 2022 Apr 27.

1Department of Experimental Pharmacology & Toxicology, Faculty of Pharmacy, University of Port Harcourt, Choba, Nigeria.

Autism is a complex spectrum of disorders with genetic, epigenetic, autoimmune, oxidative stress, and environmental etiologies. Treatment of ASD using dietary approach is a promising strategy, especially owing to its safety and availability. Our study critically analysed the roles and efficacy of antioxidants, probiotics, prebiotics, camel milk and vitamin D. Read More

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The role of properdin and Factor H in disease.

Adv Immunol 2022 4;153:1-90. Epub 2022 Feb 4.

Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States. Electronic address:

The complement system consists of three pathways (alternative, classical, and lectin) that play a fundamental role in immunity and homeostasis. The multifunctional role of the complement system includes direct lysis of pathogens, tagging pathogens for phagocytosis, promotion of inflammatory responses to control infection, regulation of adaptive cellular immune responses, and removal of apoptotic/dead cells and immune complexes from circulation. A tight regulation of the complement system is essential to avoid unwanted complement-mediated damage to the host. Read More

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Preparations for Rheumatoid Arthritis: An Overview of Systematic Reviews.

Evid Based Complement Alternat Med 2022 12;2022:3151936. Epub 2022 Apr 12.

Centre for Evidence-Based Chinese Medicine, Institute of Basic Research in Clinical Medicine, China Academy of Chinese Medical Sciences, Beijing, China.

Objectives: To summarize the quantity and quality of evidence for using (TwHF) preparations in patients with rheumatoid arthritis (RA) and to find the reasons of the disparity by comprehensively appraising the related systematic reviews (SRs).

Methods: We performed an overview of evidence for the effectiveness and safety of TwHF preparations for patients with RA. We searched seven literature databases from inception to July 15, 2021. Read More

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Hereditary Angioedema: A Review.

Authors:
Heidi Zafra

WMJ 2022 Apr;121(1):48-53

Division of Allergy/Clinical Immunology, Medical College of Wisconsin, Milwaukee, Wisconsin,

Hereditary angioedema (HAE) is a rare and disabling disorder wherein there is excessive bradykinin production, with subsequent increased vascular permeability in the superficial tissues and gastrointestinal and respiratory mucosa. This article serves as a review of the pathogenesis of the disease, as well as an update of the evidence-based new treatment recommendations to help clinicians with the diagnosis and management of HAE. Read More

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Screening for Immunodeficiencies in Children With Invasive Pneumococcal Disease: Six-year Experience From a UK Children's Hospital.

Pediatr Infect Dis J 2022 07 7;41(7):575-578. Epub 2022 Jun 7.

From the Oxford Vaccine Group, Department of Paediatrics, University of Oxford, Oxford University Hospitals NHS Foundation Trust, and National Institute for Health Research Oxford Biomedical Research Centre, Oxford, United Kingdom.

Background: A previous study showed that investigation of children with invasive pneumococcal disease (IPD) revealed an immunodeficiency in up to 10% of cases. Following this report, we implemented a protocol to investigate children with IPD, to assess the proportion with an immunodeficiency in our setting.

Methods: We retrospectively identified patients who presented with IPD from January 2015 to November 2020 and collected data from medical records. Read More

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, a Hexose Transporter from Cucumber ( L.), Affects Sugar Metabolism and Improves Cold Tolerance in Arabidopsis.

Int J Mol Sci 2022 Mar 31;23(7). Epub 2022 Mar 31.

Institute of Agri-Food Processing and Nutrition, Beijing Academy of Agricultural and Forestry Sciences, Beijing 100097, China.

Sugars, which are critical osmotic compounds and signalling molecules in plants, and Sugars Will Eventually be Exported Transporters (SWEETs), which constitute a novel family of sugar transporters, play central roles in plant responses to multiple abiotic stresses. In the present study, a member of the gene family from cucumber ( L.), , was identified and characterized. Read More

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Meningococcal Vaccination:: An Update on Meningococcal Vaccine Recommendations for the Primary Care Physician.

Dela J Public Health 2022 Mar 29;8(1):76-78. Epub 2022 Mar 29.

Director, Pediatric Infectious Disease; Director, Quality Assurance and Performance Improvement, ChristianaCare; Co-Chair, Immunization Coalition of Delaware.

Neisseria meningitidis is an aerobic, gram-negative, diplococcus bacterium that is a leading cause of meningitis and sepsis in the United States. Particularly at-risk groups include those with complement deficiencies, people using complement inhibitors, individuals with anatomic or functional asplenia, patients with HIV infection and travelers to endemic countries. There are currently three quadrivalent meningococcal vaccines (Serogroups A, C, W, Y) and two recombinant serogroup B vaccines available for use in the United States, and recommendations for vaccine use have changed rapidly in the past 10-15 years. Read More

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Hereditary angio-oedema with C1 inhibitor deficiency type I, an unusual stroke mimic.

BMJ Case Rep 2022 Apr 7;15(4). Epub 2022 Apr 7.

Neurology, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.

Hereditary angio-oedema with C1 inhibitor deficiency (C1-INH-HAE) type I is a rare immune disorder characterised by a deficit of functional C1 esterase inhibitor (C1-INH). Recurrent C1-INH-HAE attacks typically present as generalised skin swelling and abdominal pain. Neurological involvement is very unusual, with a few reports of cephalea and recurrent dizziness. Read More

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Co-occurrence between hereditary angioedema and multiple sclerosis: Therapeutic management of both diseases with fingolimod.

Clin Neurol Neurosurg 2022 Mar 28;216:107222. Epub 2022 Mar 28.

Demyelinating Diseases Unit, 1st Department of Neurology, School of Medicine, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Background: Hereditary angioedema (HAE) related to C1 esterase-inhibitor deficiency activates the classic complement pathway and results to edematous crises. Although HAE is usually associated with multiple immunoregulatory disorders, neurologic manifestations are rare.

Case Report: We report on the case study of a 33-year-old man diagnosed with HAE (SERPIN1G gene mutation) and multiple sclerosis (MS), followed up for at least 6 years. Read More

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ESPEN micronutrient guideline.

Clin Nutr 2022 06 26;41(6):1357-1424. Epub 2022 Feb 26.

Departamento de Medicina, Universidad Complutense de Madrid, Nutrition Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain. Electronic address:

Background: Trace elements and vitamins, named together micronutrients (MNs), are essential for human metabolism. Recent research has shown the importance of MNs in common pathologies, with significant deficiencies impacting the outcome.

Objective: This guideline aims to provide information for daily clinical nutrition practice regarding assessment of MN status, monitoring, and prescription. Read More

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