1,211 results match your criteria Complement Deficiencies


Serum protein electrophoresis and complement deficiencies: a veteran but very versatile test in clinical laboratories.

Clin Chem Lab Med 2019 Feb 5. Epub 2019 Feb 5.

Immunology Department, Hospital Universitari Vall d'Hebron (HUVH), Diagnostic Immunology, Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1515/cclm-2018-1121DOI Listing
February 2019
1 Read

Stb5p is involved in Kluyveromyces lactis response to 4-nitroquinoline-N-oxide stress.

Folia Microbiol (Praha) 2019 Jan 31. Epub 2019 Jan 31.

Faculty of Natural Sciences, Department of Microbiology and Virology, Comenius University in Bratislava, Ilkovicova 6, 842 15, Bratislava 4, Slovak Republic.

In yeast, the STB5 gene encodes a transcriptional factor belonging to binuclear cluster class (ZnCys) of transcriptional regulators specific to ascomycetes. In this study, we prepared the Kluyveromyces lactis stb5Δ strain and assessed its responses to different stresses. We showed that KlSTB5 gene is able to complement the deficiencies of Saccharomyces cerevisiae stb5Δ mutant. Read More

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http://dx.doi.org/10.1007/s12223-019-00682-7DOI Listing
January 2019
1 Read

From Function to Vitamin-Rich Food Crops: The ACE of Biofortification.

Front Plant Sci 2018 18;9:1862. Epub 2018 Dec 18.

Laboratory of Functional Plant Biology, Department of Biology, Ghent University, Ghent, Belgium.

Humans are highly dependent on plants to reach their dietary requirements, as plant products contribute both to energy and essential nutrients. For many decades, plant breeders have been able to gradually increase yields of several staple crops, thereby alleviating nutritional needs with varying degrees of success. However, many staple crops such as rice, wheat and corn, although delivering sufficient calories, fail to satisfy micronutrient demands, causing the so called 'hidden hunger. Read More

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https://www.frontiersin.org/article/10.3389/fpls.2018.01862/
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http://dx.doi.org/10.3389/fpls.2018.01862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305313PMC
December 2018
11 Reads

Inherited Classical and Alternative Pathway Complement Deficiencies in Children: A Single Center Experience.

Iran J Immunol 2018 Dec;15(4):309-320

Dr BehcetUz Children's Hospital, Pediatric Allergy and Immunology, Izmir, Istanbul, Turkey.

Background: Primary complement deficiencies are rare diseases.

Objective: To retrospectively evaluate the clinical and laboratory findings and complications of patients to increase awareness of pediatricians about complement deficiencies, which are rarely encountered.

Methods: In this study, the clinical and immunological characteristics of 21 patients who consulted the Immunology Department of our hospital between 2003 and 2017 and were diagnosed with classical or alternative pathway complement deficiency were obtained from the file records. Read More

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http://dx.doi.org/10.22034/IJI.2018.39400DOI Listing
December 2018
2 Reads

Complement Regulation and Immune Evasion by Hepatitis C Virus.

Methods Mol Biol 2019 ;1911:337-347

Department of Internal Medicine, Saint Louis University, St. Louis, MO, USA.

A prominent role for complement has been identified in the linkage of innate and adaptive immunity. The liver is the main source of complement and hepatocytes are the primary sites for synthesis of complement components in vivo. We have discovered that hepatitis C virus (HCV) impairs C4 and C3 synthesis. Read More

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http://link.springer.com/10.1007/978-1-4939-8976-8_23
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http://dx.doi.org/10.1007/978-1-4939-8976-8_23DOI Listing
January 2019
10 Reads

Deficiency of complement factor H-related proteins and autoantibody-positive hemolytic uremic syndrome in an infant with combined partial deficiencies and autoantibodies to complement factor H and ADAMTS13.

Clin Kidney J 2018 Dec 7;11(6):791-796. Epub 2018 Mar 7.

Baylor College of Medicine, Houston, TX, USA.

A 3-month-old male infant developed an extremely severe episode of atypical hemolytic uremic syndrome (aHUS) associated with partial deficiencies of full-length complement factor H (FH; ∼15% of infant normal) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) (39% of normal) and autoantibodies reactive with both proteins. His FH and ADAMTS13 genes were normal, indicating that the partial deficiencies were acquired, probably as the result of autoantibodies against full-length FH and ADAMTS13. The child also had a homozygous deletion of the complement factor H-related (CFHR)3-CFHR1 portion in the complement factor H () gene cluster. Read More

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http://dx.doi.org/10.1093/ckj/sfy010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275444PMC
December 2018
2 Reads

Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency.

J Allergy Clin Immunol 2018 Dec;142(6):1679-1695

Department of Pediatrics, Division of Stem Cell Transplantation and Regenerative Medicine, Stanford School of Medicine, Stanford, Calif; Stanford Institute for Stem Cell Biology and Regenerative Medicine, Stanford School of Medicine, Stanford, Calif. Electronic address:

Monogenic diseases of the immune system, also known as inborn errors of immunity, are caused by single-gene mutations resulting in immune deficiency and dysregulation. More than 350 diseases have been described to date, and the number is rapidly expanding, with increasing availability of next-generation sequencing facilitating the diagnosis. The spectrum of immune dysregulation is wide, encompassing deficiencies in humoral, cellular, innate, and adaptive immunity; phagocytosis; and the complement system, which lead to autoinflammation and autoimmunity. Read More

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http://dx.doi.org/10.1016/j.jaci.2018.10.026DOI Listing
December 2018
4 Reads

Differential influences of complement on neutrophil responses to Neisseria meningitidis infection.

Pathog Dis 2018 Nov 1;76(8). Epub 2018 Nov 1.

Institute for Hygiene and Microbiology, University of Würzburg, 97080 Würzburg, Germany.

The complement system is the primary innate immune determinant protecting against invasive diseases caused by the Gram-negative bacterium Neisseria meningitidis (Nme, meningococcus), as evidenced by the extreme susceptibility of individuals with complement deficiencies. In contrast, the role of phagocytes such as neutrophils is much less well understood, although they are recruited in great numbers to the cerebrospinal fluid during meningococcal meningitis. Here, we consider the interaction of Nme with primary human neutrophils using either purified cells or a whole blood model of infection. Read More

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https://academic.oup.com/femspd/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/femspd/fty086DOI Listing
November 2018
17 Reads

Complement Inhibitor CRIg/FH Ameliorates Renal Ischemia Reperfusion Injury via Activation of PI3K/AKT Signaling.

J Immunol 2018 Dec 14;201(12):3717-3730. Epub 2018 Nov 14.

Fudan University Shanghai Cancer Center and Institutes of Biomedical Sciences, Collaborative Innovation Center of Cancer Medicine, Fudan University, Shanghai 200032, China;

Complement activation is involved in the pathogenesis of ischemia reperfusion injury (IRI), which is an inevitable process during kidney transplantation. Therefore, complement-targeted therapeutics hold great potential in protecting the allografts from IRI. We observed universal deposition of C3d and membrane attack complex in human renal allografts with delayed graft function or biopsy-proved rejection, which confirmed the involvement of complement in IRI. Read More

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http://www.jimmunol.org/lookup/doi/10.4049/jimmunol.1800987
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http://dx.doi.org/10.4049/jimmunol.1800987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287101PMC
December 2018
8 Reads

Interpretation of Serological Complement Biomarkers in Disease.

Front Immunol 2018 24;9:2237. Epub 2018 Oct 24.

Rudbeck Laboratory C5:3, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

Complement system aberrations have been identified as pathophysiological mechanisms in a number of diseases and pathological conditions either directly or indirectly. Examples of such conditions include infections, inflammation, autoimmune disease, as well as allogeneic and xenogenic transplantation. Both prospective and retrospective studies have demonstrated significant complement-related differences between patient groups and controls. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02237
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http://dx.doi.org/10.3389/fimmu.2018.02237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207586PMC
October 2018
7 Reads

Methodological and reporting quality evaluation of systematic reviews on acupuncture in women with polycystic ovarian syndrome: A systematic review.

Complement Ther Clin Pract 2018 Nov 11;33:197-203. Epub 2018 Oct 11.

Graduate School, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, China. Electronic address:

Purpose: To evaluate the methodological and reporting quality of systematic reviews (SRs) on acupuncture treatment for women with polycystic ovarian syndrome (PCOS).

Methods: A comprehensive search on multiple databases was performed. Methodological and reporting quality of reviews were assessed by revised assessment of multiple systematic reviews (AMSTAR 2) and preferred reporting items for SRs and meta-analyses (PRISMA), respectively. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17443881183041
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http://dx.doi.org/10.1016/j.ctcp.2018.10.002DOI Listing
November 2018
14 Reads

Amyloidosis Presenting with Macroglossia.

Cureus 2018 Aug 22;10(8):e3185. Epub 2018 Aug 22.

Internal Medicine, Icahn School of Medicine at Mount Sinai/Queens Hospital Center, New York, USA.

Macroglossia is an uncommon condition that causes cosmetic and functional disabilities. We present a case of a 67-year-old patient with the past medical history of vitamin B12 deficiencies who presented with macroglossia and was found to have amyloidosis. She had an enlarged tongue with multiple ulcerations secondary to traumatic injury from dentation along with difficulty swallowing. Read More

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http://dx.doi.org/10.7759/cureus.3185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199138PMC
August 2018
13 Reads

Immunodeficiency caused by cirrhosis.

Clin Exp Hepatol 2018 Sep 10;4(3):158-164. Epub 2018 Sep 10.

The Second Ward of Infectious Diseases, the District Specialized Hospital under Name J. Gromkowski in Wroclaw, Poland.

The syndrome of decreased immunity caused by cirrhosis is a combination of different immunological mechanisms and reactions which result from an advanced stage of the liver disease. The synthesis of proteins of the acute phase becomes impaired, there develop different deficiencies of the complement system, and there ensues a decrease of receptors that are meant to recognize antigens. The negative changes become apparent in the field of cell responses, e. Read More

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http://dx.doi.org/10.5114/ceh.2018.78119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185932PMC
September 2018
4 Reads

Limited Innovations After More Than 65 Years of Immunoglobulin Replacement Therapy: Potential of IgA- and IgM-Enriched Formulations to Prevent Bacterial Respiratory Tract Infections.

Front Immunol 2018 23;9:1925. Epub 2018 Aug 23.

Section Pediatric Infectious Diseases, Laboratory of Medical Immunology, Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

Patients with primary immunoglobulin deficiency have lower immunoglobulin levels or decreased immunoglobulin function, which makes these patients more susceptible to bacterial infection. Most prevalent are the selective IgA deficiencies (~1:3,000), followed by common variable immune deficiency (~1:25,000). Agammaglobulinemia is less common (~1:400,000) and is characterized by very low or no immunoglobulin production resulting in a more severe disease phenotype. Read More

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http://dx.doi.org/10.3389/fimmu.2018.01925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115500PMC
August 2018
4 Reads

Cq1 Exon Polymorphisms in Caucasian and African American Systemic Lupus Erythematosus patients.

Pak J Biol Sci 2018 ;21(3):119-126

Background: C1q protein is composed of three protein chains (A, B and C) that are the products of separate genes. Genetic deficiencies in C1Q genes are important factors influencing the risk of systemic lupus erythematosus (SLE). Therefore, this study aimed to investigate the possible association of single nucleotide polymorphisms (SNPs) in the coding region of the C1Q genes with SLE. Read More

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http://www.scialert.net/abstract/?doi=pjbs.2018.119.126
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http://dx.doi.org/10.3923/pjbs.2018.119.126DOI Listing
January 2018
9 Reads

[Paroxysmal nocturnal hemoglobinuria and thrombosis in the era of eculizumab].

Rinsho Ketsueki 2018;59(8):1042-1047

Osaka University Graduate School of Medicine, Department of Hematology and Oncology.

Paroxysmal nocturnal hemoglobinuria (PNH) arises as a consequence of clonal expansion of hematopoietic stem cells that have acquired a somatic mutation in the PIGA gene. The resulting hematopoietic cells have deficiencies in the GPI-anchored complement regulatory proteins CD55 and CD59, which account for the intravascular hemolysis that is the primary clinical manifestation of PNH. Thromboembolism is a major cause of morbidity and mortality in PNH, particularly in Caucasian patients. Read More

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http://dx.doi.org/10.11406/rinketsu.59.1042DOI Listing
January 2018
5 Reads

Data Rich, Information Poor: Can We Use Electronic Health Records to Create a Learning Healthcare System for Pharmaceuticals?

Clin Pharmacol Ther 2018 Sep 4. Epub 2018 Sep 4.

Organisation for Economic Co-operation and Development, Paris, France.

Judicious use of real-world data (RWD) is expected to make all steps in the development and use of pharmaceuticals more effective and efficient, including research and development, regulatory decision making, health technology assessment, pricing, and reimbursement decisions and treatment. A "learning healthcare system" based on electronic health records and other routinely collected data will be required to harness the full potential of RWD to complement evidence based on randomized controlled trials. We describe and illustrate with examples the growing demand for a learning healthcare system; we contrast the exigencies of an efficient pharmaceutical ecosystem in the future with current deficiencies highlighted in recently published Organisation for Economic Co-operation and Development (OECD) reports; and we reflect on the steps necessary to enable the transition from healthcare data to actionable information. Read More

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http://doi.wiley.com/10.1002/cpt.1226
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http://dx.doi.org/10.1002/cpt.1226DOI Listing
September 2018
39 Reads

Meningococcal B Vaccine Immunogenicity in Children With Defects in Complement and Splenic Function.

Pediatrics 2018 Sep 1;142(3). Epub 2018 Aug 1.

Oxford Vaccine Group, Department of Paediatrics, University of Oxford, Oxford, United Kingdom;

Background: The capsular group B meningococcal vaccine (4CMenB) is recommended for children with complement deficiencies, asplenia, and splenic dysfunction; however, data on the immunogenicity of 4CMenB in these "at-risk" children are missing.

Methods: Participants aged 2 to 17 years in Italy, Spain, Poland, the United Kingdom, and Russia with complement deficiencies, asplenia, or splenic dysfunction received 2 doses of 4CMenB 2 months apart, as did healthy children in the control group. Exogenous and endogenous human complement serum bactericidal activity (SBA) was determined at baseline and 1 month after the second immunization against 4 test strains: H44/76 (assessing vaccine antigen factor H binding protein), 5/99 (Neisserial adhesion A), NZ98/254 (Porin A), and M10713 (Neisserial heparin binding antigen). Read More

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http://dx.doi.org/10.1542/peds.2017-4250DOI Listing
September 2018
20 Reads

Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family.

Pediatr Infect Dis J 2018 Jul 31. Epub 2018 Jul 31.

Primary Immunodeficiencies Unit.

Although bacterial meningitis is a rare presentation of a congenital immunodeficiency, invasive meningococcal disease (IMD) is classicaly associated with complement deficiencies. We report a patient from a consanguineous kindred presenting with an IMD caused by serogroup B meningococcus that revealed an underlying C5 deficiency caused by a novel mutation in the C5 gene. Read More

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http://dx.doi.org/10.1097/INF.0000000000002149DOI Listing
July 2018
10 Reads

Elemental Profiling of Rice FOX Lines Leads to Characterization of a New Zn Plasma Membrane Transporter, OsZIP7.

Front Plant Sci 2018 3;9:865. Epub 2018 Jul 3.

Department of Biological Sciences, Dartmouth College, Hanover, NH, United States.

Iron (Fe) and zinc (Zn) are essential micronutrients required for proper development in both humans and plants. Rice ( L.) grains are the staple food for nearly half of the world's population, but a poor source of metals such as Fe and Zn. Read More

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http://dx.doi.org/10.3389/fpls.2018.00865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037872PMC
July 2018
11 Reads

Clinical features of patients with homozygous complement C4A or C4B deficiency.

PLoS One 2018 21;13(6):e0199305. Epub 2018 Jun 21.

Transplantation Laboratory, Medicum, University of Helsinki, Helsinki, Finland.

Introduction: Homozygous deficiencies of complement C4A or C4B are detected in 1-10% of populations. In genome-wide association studies C4 deficiencies are missed because the genetic variation of C4 is complex. There are no studies where the clinical presentation of these patients is analyzed. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0199305PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013154PMC
June 2018
5 Reads

[Atypical hemolytic uremic syndrome caused by primary complement defects].

Authors:
György Reusz

Orv Hetil 2018 Jun;159(23):929-936

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53-54., 1083.

Complement is one of the most archaic parts of the innate immune system, which enhances the ability of antibodies and phagocytic cells to clear cell debris, and microorganisms. The complement system promotes inflammation and attacks the pathogen's plasma membrane. Malfunction of the system may lead to the development of autoimmunity or uncontrolled infections. Read More

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http://dx.doi.org/10.1556/650.2018.31044DOI Listing
June 2018
3 Reads

Angioedema: A Life-threatening Complication of Tissue Plasminogen Activator.

Cureus 2018 Mar 29;10(3):e2392. Epub 2018 Mar 29.

Internal Medicine, John H Stroger J. Hospital of Cook County.

Angioedema is a localized, non-pitting, non-dependent, submucosal, and subcutaneous swelling resulting from the extravasation of fluid into the interstitium due to the increased production of plasma kinins and histamine. It can present with urticaria or anaphylaxis and is usually associated with angiotensin-converting enzyme inhibitors (ACEis), complement deficiencies, or the side effects of tissue plasminogen activator (tPA). Orolingual angioedema following tPA for acute ischemic stroke is a transient, self-resolving hemifacial swelling contralateral to neurological deficits that can rarely progress to the airway, compromising it and leading to a life-threatening situation if not managed promptly. Read More

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http://dx.doi.org/10.7759/cureus.2392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973511PMC
March 2018
6 Reads

Phylogenetic signal from rearrangements in 18 Anopheles species by joint scaffolding extant and ancestral genomes.

BMC Genomics 2018 May 9;19(Suppl 2):96. Epub 2018 May 9.

ISEM, Université de Montpellier, CNRS, IRD, EPHE, Montpellier, France.

Background: Genomes rearrangements carry valuable information for phylogenetic inference or the elucidation of molecular mechanisms of adaptation. However, the detection of genome rearrangements is often hampered by current deficiencies in data and methods: Genomes obtained from short sequence reads have generally very fragmented assemblies, and comparing multiple gene orders generally leads to computationally intractable algorithmic questions.

Results: We present a computational method, ADSEQ, which, by combining ancestral gene order reconstruction, comparative scaffolding and de novo scaffolding methods, overcomes these two caveats. Read More

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http://dx.doi.org/10.1186/s12864-018-4466-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954271PMC
May 2018
6 Reads

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.

Biol Psychiatry 2019 Feb 15;85(4):287-297. Epub 2018 Mar 15.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

Background: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. Read More

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http://dx.doi.org/10.1016/j.biopsych.2018.02.1173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139063PMC
February 2019
11 Reads

Complement Activation in Inflammatory Skin Diseases.

Front Immunol 2018 16;9:639. Epub 2018 Apr 16.

Department of Pathology, Erasmus Medical Center Rotterdam, Rotterdam, Netherlands.

The complement system is a fundamental part of the innate immune system, playing a crucial role in host defense against various pathogens, such as bacteria, viruses, and fungi. Activation of complement results in production of several molecules mediating chemotaxis, opsonization, and mast cell degranulation, which can contribute to the elimination of pathogenic organisms and inflammation. Furthermore, the complement system also has regulating properties in inflammatory and immune responses. Read More

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http://dx.doi.org/10.3389/fimmu.2018.00639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911619PMC
April 2018
5 Reads

Complement deficiency in pediatric-onset systemic lupus erythematosus.

J Lab Physicians 2018 Apr-Jun;10(2):232-236

Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.

Background: Pediatric-onset systemic lupus erythematosus (pSLE) accounts for about 10%-20% of all patients with SLE. Deficiencies in early complement components of the classical pathway are the strong genetic risk factor for the development of SLE. In this study, clinical and laboratory manifestations of both complement-deficient and normal complement pSLE patients were compared. Read More

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http://dx.doi.org/10.4103/JLP.JLP_171_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896194PMC
April 2018
4 Reads
1 Citation

Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies.

Front Immunol 2018 21;9:500. Epub 2018 Mar 21.

Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Background: Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries.

Objective: The purposes of our study were to confirm CD and define complete and partial CD in registered patients in Slovenia, to evaluate frequency of clinical manifestations, and to assess the risk for characteristic infections separately for subjects with complete and partial CD.

Methods: CD was confirmed with genetic analyses in patients with C2 deficiency, C8 deficiency, and hereditary angioedema or with repeated functional complement studies and measurement of complement components in other CD. Read More

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http://dx.doi.org/10.3389/fimmu.2018.00500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871747PMC
March 2018
14 Reads

Refractory Abdominal Pain in a Patient with Chronic Lymphocytic Leukemia: Be Wary of Acquired Angioedema due to C1 Esterase Inhibitor Deficiency.

Case Rep Hematol 2018 10;2018:7809535. Epub 2018 Jan 10.

Department of Medicine, Reading Hospital, West Reading, PA, USA.

Acquired angioedema due to C1 inhibitor deficiency (C1INH-AAE) is a rare and potentially fatal syndrome of bradykinin-mediated angioedema characterized by episodes of angioedema without urticaria. It typically manifests with nonpitting edema of the skin and edema in the gastrointestinal (GI) tract mucosa or upper airway. Edema of the upper airway and tongue may lead to life-threatening asphyxiation. Read More

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http://dx.doi.org/10.1155/2018/7809535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818943PMC
January 2018
15 Reads

CRISPR/Cas9 generated human CD46, CD55 and CD59 knockout cell lines as a tool for complement research.

J Immunol Methods 2018 May 12;456:15-22. Epub 2018 Feb 12.

Department of Immunopathology, Sanquin Research and Landsteiner Laboratory Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

Background: To prevent unwanted complement activation and subsequent damage, complement activation must be tightly regulated on healthy host cells. Dysregulation of the complement system contributes to the pathology of diseases like Paroxysmal Nocturnal Hemoglobinuria and atypical Hemolytic Uremic Syndrome. To investigate complement regulator deficiencies, primary patient cells may be used, but access to patient cells may be limited and cells are heterogeneous between different patients. Read More

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http://dx.doi.org/10.1016/j.jim.2018.02.004DOI Listing
May 2018
9 Reads

Lymphocyte integration of complement cues.

Semin Cell Dev Biol 2019 Jan 8;85:132-142. Epub 2018 Mar 8.

Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain. Electronic address:

We address current data, views and puzzles on the emerging topic of regulation of lymphocytes by complement proteins or fragments. Such regulation is believed to take place through complement receptors (CR) and membrane complement regulators (CReg) involved in cell function or protection, respectively, including intracellular signalling. Original observations in B cells clearly support that complement cues through CR improve their performance. Read More

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http://dx.doi.org/10.1016/j.semcdb.2018.02.005DOI Listing
January 2019
9 Reads

Low Levels of Immunoglobulins and Mannose-Binding Lectin Are Not Associated With Etiology, Severity, or Outcome in Community-Acquired Pneumonia.

Open Forum Infect Dis 2018 Feb 5;5(2):ofy002. Epub 2018 Jan 5.

Department of Internal Medicine, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway.

Background: Disease severity and outcome in community-acquired pneumonia (CAP) depend on the host and on the challenge of the causal microorganism(s). We measured levels of immunoglobulins (Igs) and complement in 257 hospitalized adults with CAP and examined the association of low levels of Igs or complement to microbial etiology, disease severity, and short-term and long-term outcome.

Methods: Serum Igs were analyzed in blood samples obtained at admission and at 6 weeks postdischarge if admission levels were low. Read More

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https://academic.oup.com/ofid/article/doi/10.1093/ofid/ofy00
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http://dx.doi.org/10.1093/ofid/ofy002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793818PMC
February 2018
14 Reads

sox2 and sox3 cooperate to regulate otic/epibranchial placode induction in zebrafish.

Dev Biol 2018 03 13;435(1):84-95. Epub 2018 Feb 13.

Department of Biology, Texas A&M University, College Station, TX 77843-3258, United States. Electronic address:

Expression of sox3 is one of the earliest markers of Fgf-dependent otic/epibranchial placode induction. We report here that sox2 is also expressed in the early otic/epibranchial placode in zebrafish. To address functions of sox2 and sox3, we generated knockouts and heat shock-inducible transgenes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00121606173074
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http://dx.doi.org/10.1016/j.ydbio.2018.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818308PMC
March 2018
6 Reads

IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation.

J Clin Immunol 2018 Feb 15;38(2):185-192. Epub 2018 Jan 15.

Section Pediatric Infectious Diseases, Laboratory of Medical Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists. Especially patients with IgM deficiency remain at risk for recurrent infections of the gastrointestinal and respiratory tract. Read More

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http://dx.doi.org/10.1007/s10875-017-0474-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5840230PMC
February 2018
12 Reads

Functional mannose binding lectin levels in patients with pediatric onset systemic lupus erythematosus in remission.

Int J Rheum Dis 2018 Mar 4;21(3):710-715. Epub 2018 Jan 4.

Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Background: Complement system plays a crucial role in the pathogenesis of systemic lupus erythematosus (SLE). Excessive activation of complement causes tissue injury and SLE occurrence is typically associated with congenital deficiencies of the early components of the classical complement pathway. Mannose-binding lectin (MBL) is recognized as important causative factor in the etio-pathogenesis of SLE and MBL-2 gene has evolved as a candidate gene for SLE susceptibility. Read More

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http://dx.doi.org/10.1111/1756-185X.13249DOI Listing
March 2018
13 Reads

Potential impact of complement regulator deficiencies on hemolytic reactions due to minor ABO-mismatched transfusions.

Blood Adv 2017 Oct 11;1(23):1977-1982. Epub 2017 Oct 11.

Diagnostic Laboratories and.

Minor ABO-mismatched transfusions are a common occurrence, although infrequent transfusion reactions occur. We sought to investigate the regulation of complement C3 activation induced by anti-A. In vitro complement C3 activation was observed with 10 of 30 group O samples and correlated with immunoglobulin M (IgM) anti-A titers. Read More

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http://dx.doi.org/10.1182/bloodadvances.2017008805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728284PMC
October 2017
17 Reads

Neurexins and neuropsychiatric disorders.

Neurosci Res 2018 Feb 6;127:53-60. Epub 2017 Dec 6.

Department of Molecular & Cellular Physiology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621 Japan; Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto 390-8621, Japan. Electronic address:

Neurexins are a family of presynaptic single-pass transmembrane proteins that act as synaptic organizers in mammals. The neurexins consist of three genes (NRXN1, NRXN2, and NRXN3), each of which produces a longer α- and shorter β-form. Genomic alterations in NRXN genes have been identified in a wide variety of neuropsychiatric disorders, including autism spectrum disorders (ASD), schizophrenia, intellectual disability (ID), and addiction. Read More

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http://dx.doi.org/10.1016/j.neures.2017.10.012DOI Listing
February 2018
8 Reads

Optical Coherence Tomography-Based Scattering Properties of Retinal Vessels in Glaucoma Patients.

Curr Eye Res 2018 04 4;43(4):503-510. Epub 2017 Dec 4.

a Department of Ophthalmology , University Hospital Hamburg-Eppendorf , Hamburg , Germany.

Purpose: Clinical trials have demonstrated that retinal blood flow deficiencies are present in patients with open-angle glaucoma (OAG). We introduce a method for facilitating retinal vessel analysis: The intensity of the distal shadow of vessels in optical coherence tomography (OCT) caused by the scattered signal is analyzed, compared between healthy subjects and OAG patients and correlated with OCT angiography (OCT-A) flow density.

Patients And Methods: We recruited 80 patients with diagnosed OAG (mean age 63. Read More

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http://dx.doi.org/10.1080/02713683.2017.1410179DOI Listing
April 2018
7 Reads

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Hum Mutat 2018 03 18;39(3):406-414. Epub 2017 Dec 18.

Clinical Genetics Unit, Department of Women and Children's Health, IRP Città della Speranza, University of Padova, Padova, Italy.

Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). Read More

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http://dx.doi.org/10.1002/humu.23376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838795PMC
March 2018
25 Reads

The nutritional limitations of plant-based beverages in infancy and childhood.

Authors:
Isidro Vitoria

Nutr Hosp 2017 Oct 24;34(5):1205-1214. Epub 2017 Oct 24.

Hospital La Fe.Valencia.

Breastfeeding, infant formula and cow's milk are basic foods in infant nutrition. However, they are being increasingly replaced either totally or partially by plant-based beverages.The composition of 164 plant-based beverages available in Spain was reviewed based on the nutritional labeling of the package and the manufacturers' webpages. Read More

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http://dx.doi.org/10.20960/nh.931DOI Listing
October 2017
10 Reads

Monogenic lupus: it's all new!

Curr Opin Immunol 2017 Dec 27;49:87-95. Epub 2017 Oct 27.

The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Blvd., Philadelphia, PA, USA.

Monogenic lupus is rare, but its study has contributed immensely to a better understanding of the pathogenesis of systemic lupus erythematosus. The first forms identified were inherited complement deficiencies, which predisposed to lupus due to impaired tolerance, and aberrant clearance of apoptotic bodies and immune complexes. In recent years, several new monogenic disorders with a lupus-like phenotype have been described. Read More

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http://dx.doi.org/10.1016/j.coi.2017.10.008DOI Listing
December 2017
10 Reads

Defective Wnt3 expression by testicular Sertoli cells compromise male fertility.

Cell Tissue Res 2018 02 24;371(2):351-363. Epub 2017 Oct 24.

Cellular Endocrinology Laboratory, National Institute of Immunology, New Delhi, Delhi, 110067, India.

Testicular Sertoli cells make a niche for the division and differentiation of germ cells. Sertoli cells respond to increased follicle-stimulating hormone (FSH) and testosterone (T) levels at the onset of puberty by producing paracrine factors which affect germ cells and trigger robust onset of spermatogenesis. Such paracrine support to germ cells is absent during infancy, despite Sertoli cells being exposed to high FSH and T within the infant testis. Read More

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http://dx.doi.org/10.1007/s00441-017-2698-5DOI Listing
February 2018
25 Reads

Neutrophils from Patients with Primary Ciliary Dyskinesia Display Reduced Chemotaxis to CXCR2 Ligands.

Front Immunol 2017 22;8:1126. Epub 2017 Sep 22.

Laboratory of Molecular Immunology, Department of Microbiology and Immunology, Rega Institute for Medical Research, University of Leuven, Leuven, Belgium.

Primary ciliary dyskinesia (PCD), cystic fibrosis (CF), and chronic obstructive airway disease are characterized by neutrophilic inflammation in the lungs. In CF and chronic obstructive airway disease, improper functioning of neutrophils has been demonstrated. We hypothesized that the pulmonary damage in PCD might be aggravated by abnormal functioning neutrophils either as a primary consequence of the PCD mutation or secondary to chronic inflammation. Read More

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http://dx.doi.org/10.3389/fimmu.2017.01126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614927PMC
September 2017
43 Reads

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Am J Hum Genet 2017 Oct 21;101(4):525-538. Epub 2017 Sep 21.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address:

Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial matrix and has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription. It has an N-terminal mitochondrial targeting peptide that is proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure. Read More

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http://dx.doi.org/10.1016/j.ajhg.2017.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630164PMC
October 2017
29 Reads
1 Citation
10.931 Impact Factor

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.

J Clin Immunol 2017 Nov 23;37(8):781-789. Epub 2017 Sep 23.

Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Department of Cell Biology, Physiology and Immunology, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.

The complement system is an important effector arm of innate immunity and plays a crucial role in the defense against common pathogens. But effective defense and maintenance of homeostasis requires a careful balance between complement activation and regulation. Factor I (FI) is one of the most important regulators of the complement system. Read More

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http://link.springer.com/10.1007/s10875-017-0447-x
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http://dx.doi.org/10.1007/s10875-017-0447-xDOI Listing
November 2017
16 Reads

From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.

Am J Med Genet A 2018 Apr 21;176(4):784-803. Epub 2017 Sep 21.

Department of Pediatrics and Seattle Children's Research Institute, University of Washington, Seattle, Washington.

The field of primary immunodeficiency diseases (PID) is rapidly expanding with more than 300 genetically defined disorders that have been clinically described and molecularly analyzed. The molecular dissection of these entities has led to the discovery of new immunologic pathways and to novel and effective disease-specific therapies. This review provides a summary of these primary immune defects categorized by clinical phenotype and molecular similarity as defined by the International Union of Immunologic Societies (IUIS) Expert Committee for PID. Read More

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http://dx.doi.org/10.1002/ajmg.a.38480DOI Listing
April 2018
13 Reads

Analysis of Levodopa Content in Commercial Mucuna pruriens Products Using High-Performance Liquid Chromatography with Fluorescence Detection.

J Altern Complement Med 2018 Feb 18;24(2):182-186. Epub 2017 Sep 18.

1 Department of Neurology, Oregon Health and Science University , Portland, OR.

Objectives: Mucuna pruriens (MP) seeds contain levodopa (up to 2% by weight) and have been used in traditional Indian medicine to treat an illness named "Kampavata," now understood to be Parkinson's disease (PD). Studies have shown MP to be beneficial, and even superior, to levodopa alone in treating PD symptoms. Commercial products containing MP are readily available from online and retail sources to patients and physicians. Read More

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http://dx.doi.org/10.1089/acm.2017.0054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808387PMC
February 2018
10 Reads

Multiple Semantic Matching on Augmented $N$ -Partite Graph for Object Co-Segmentation.

IEEE Trans Image Process 2017 Dec 8;26(12):5825-5839. Epub 2017 Sep 8.

Recent methods for object co-segmentation focus on discovering single co-occurring relation of candidate regions representing the foreground of multiple images. However, region extraction based only on low and middle level information often occupies a large area of background without the help of semantic context. In addition, seeking single matching solution very likely leads to discover local parts of common objects. Read More

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http://dx.doi.org/10.1109/TIP.2017.2750410DOI Listing
December 2017
70 Reads

LuxS/AI-2 in Streptococcus agalactiae reveals a key role in acid tolerance and virulence.

Res Vet Sci 2017 Dec 4;115:501-507. Epub 2017 Aug 4.

College of Veterinary Medicine, South China Agricultural University, Guangzhou 510642, China. Electronic address:

LuxS-mediated autoinducer-2 (AI-2) directly or indirectly regulates important physiologic function in a variety of bacteria. We found a luxS homologue in the genome of Streptococcus agalactiae, an important pathogen of tilapia. To investigate the relationship between luxS/AI-2 and pathogenicity for tilapia, its bioluminescent activity, acid resistance, cell adherence, virulence, and regulation of virulence gene were evaluated. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00345288163056
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http://dx.doi.org/10.1016/j.rvsc.2017.07.032DOI Listing
December 2017
10 Reads