Quantitative multiplex profiling of the complement system to diagnose complement‐mediated diseases

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.

[1]  H. Hense,et al.  Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium. , 2020, Ophthalmology.

[2]  K. Sullivan,et al.  European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management , 2020, Journal of Clinical Immunology.

[3]  M. Ling,et al.  Analysis of the Complement System in the Clinical Immunology Laboratory. , 2019, Clinics in laboratory medicine.

[4]  M. Kirschfink,et al.  Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. , 2019, Molecular immunology.

[5]  C. Picard,et al.  Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies , 2019, Front. Immunol..

[6]  H. Fan,et al.  Association between the mannose-binding lectin (MBL)-2 gene variants and serum MBL with pulmonary tuberculosis: An update meta-analysis and systematic review. , 2019, Microbial pathogenesis.

[7]  E. Volokhina,et al.  Biosynthetic homeostasis and resilience of the complement system in health and infectious disease , 2019, EBioMedicine.

[8]  A. Hofman,et al.  Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane , 2018, Ophthalmology.

[9]  M. López-Trascasa,et al.  Complement as a diagnostic tool in immunopathology. , 2018, Seminars in cell & developmental biology.

[10]  D. Kavanagh,et al.  Diseases of complement dysregulation—an overview , 2018, Seminars in Immunopathology.

[11]  M. Cicardi,et al.  Diagnosis, Course, and Management of Angioedema in Patients With Acquired C1-Inhibitor Deficiency. , 2017, The journal of allergy and clinical immunology. In practice.

[12]  M. Józsi Factor H Family Proteins in Complement Evasion of Microorganisms , 2017, Front. Immunol..

[13]  J. Atkinson,et al.  Complement Dysregulation and Disease: Insights from Contemporary Genetics. , 2017, Annual review of pathology.

[14]  M. Wilson,et al.  Clusterin facilitates apoptotic cell clearance and prevents apoptotic cell-induced autoimmune responses , 2016, Cell Death and Disease.

[15]  Ivana K. Kim,et al.  A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants , 2015, Nature Genetics.

[16]  R. Burwick,et al.  The complement system and adverse pregnancy outcomes. , 2015, Molecular immunology.

[17]  P. Kralickova,et al.  Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe , 2015, Journal of Clinical Immunology.

[18]  M. Cicardi,et al.  Pathophysiology of Hereditary Angioedema. , 2014, Pediatric allergy, immunology, and pulmonology.

[19]  M. Kirschfink,et al.  Are complement deficiencies really rare? Overview on prevalence, clinical importance and modern diagnostic approach. , 2014, Molecular immunology.

[20]  M. Heurich,et al.  The complotype: dictating risk for inflammation and infection , 2012, Trends in immunology.

[21]  Min Zhao,et al.  CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis , 2012, Current eye research.

[22]  I. Wilson,et al.  Complement polymorphisms: geographical distribution and relevance to disease. , 2012, Immunobiology.

[23]  B. J. Klevering,et al.  Risk alleles in CFH and ARMS2 are independently associated with systemic complement activation in age-related macular degeneration. , 2012, Ophthalmology.

[24]  C. Keilhauer,et al.  An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). , 2010, Human molecular genetics.

[25]  John D Lambris,et al.  Complement: a key system for immune surveillance and homeostasis , 2010, Nature Immunology.

[26]  P. Keith,et al.  2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema , 2010, Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology.

[27]  U. Schlötzer-Schrehardt,et al.  Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation. , 2009, Blood.

[28]  P. Zipfel,et al.  Complement regulators and inhibitory proteins , 2009, Nature Reviews Immunology.

[29]  O. Christiansen,et al.  Mannose-binding lectin-2 genotypes and recurrent late pregnancy losses. , 2009, Human reproduction.

[30]  Sébastien Moretti,et al.  Bgee: Integrating and Comparing Heterogeneous Transcriptome Data Among Species , 2008, DILS.

[31]  Bi Zhou,et al.  Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. , 2007, American journal of human genetics.

[32]  K. Kidd,et al.  Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles. , 2006, Human molecular genetics.

[33]  M. Nonaka,et al.  Genomic view of the evolution of the complement system , 2006, Immunogenetics.

[34]  R. T. Smith,et al.  Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration , 2006, Nature Genetics.

[35]  P. Garred,et al.  Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis. , 2006, Molecular immunology.

[36]  S. Thiel,et al.  Clinical manifestations of mannan-binding lectin deficiency , 2005, Molecular Immunology.

[37]  J. Casanova,et al.  Human Mannose-binding Lectin in Immunity , 2004, The Journal of experimental medicine.

[38]  O. Christiansen,et al.  Low serum level of mannan-binding lectin is a determinant for pregnancy outcome in women with recurrent spontaneous abortion. , 2002, American journal of obstetrics and gynecology.

[39]  Noémi Sándor,et al.  Complement factor H family proteins in their non-canonical role as modulators of cellular functions. , 2019, Seminars in cell & developmental biology.

[40]  K. Lynch CLSI C62-A: A New Standard for Clinical Mass Spectrometry. , 2016, Clinical chemistry.

[41]  J. D. de Winter Using the Student ’ s t-test with extremely small sample sizes , 2013 .

[42]  M. López-Trascasa,et al.  Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance. , 2012, Kidney international.

[43]  John D Lambris,et al.  Interactions between coagulation and complement—their role in inflammation , 2011, Seminars in Immunopathology.

[44]  William H. Yang,et al.  Hereditary angiodema: a current state-of-the-art review, VII: Canadian Hungarian 2007 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. , 2008, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

[45]  E. Ros,et al.  Association of mannose-binding lectin gene polymorphisms with antiphospholipid syndrome, cardiovascular disease and chronic damage in patients with systemic lupus erythematosus. , 2007, Rheumatology.

[46]  A. Sheffer,et al.  DETECTION OF HEREDITARY ANGIONEUROTIC EDEMA BY DEMONSTRATION OF A REDUCTION IN THE SECOND COMPONENT OF HUMAN COMPLEMENT. , 1965, The New England journal of medicine.