Human genetics of meningococcal infections (Q89749294)

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8 April 2020

review article

1 reference

title

Human genetics of meningococcal infections (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32067109%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

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Stephanie Hodeib

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32067109%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

Michael Levin

series ordinal

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8 April 2020

publication date

17 February 2020

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8 April 2020

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Familial Deficiency of the Seventh Component of Complement Associated with Recurrent Bacteremic Infections Due to Neisseria

8 April 2020

cites work

1 reference

12 December 2020

Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred

1 reference

12 December 2020

Human deficiency of the eighth component of complement. The requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity

1 reference

12 December 2020

Absence of the sixth component of complement in a patient with repeated episodes of meningococcal meningitis

1 reference

12 December 2020

Transmission of Neisseria meningitidis among asymptomatic military recruits and antibody analysis

1 reference

12 December 2020

C4B deficiency is not associated with meningitis or bacteremia with encapsulated bacteria

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12 December 2020

Infectious diseases associated with complement deficiencies

1 reference

12 December 2020

Prevalence of homozygous C4B deficiency in patients with deficiencies of terminal complement components and meningococcemia.

1 reference

12 December 2020

Recurrent meningitis in a patient with congenital deficiency of the C9 component of complement. First case of C9 deficiency in Europe

1 reference

12 December 2020

C4B deficiency: a risk factor for bacteremia with encapsulated organisms

1 reference

12 December 2020

Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections

1 reference

12 December 2020

The quantitative association of plasma endotoxin, antithrombin, protein C, extrinsic pathway inhibitor and fibrinopeptide A in systemic meningococcal disease

1 reference

12 December 2020

Complement deficiencies in selected groups of patients with meningococcal disease

1 reference

12 December 2020

Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups

1 reference

12 December 2020

Complete and partial deficiencies of complement factor D in a Dutch family

1 reference

12 December 2020

The complex pattern of cytokines in serum from patients with meningococcal septic shock. Association between interleukin 6, interleukin 1, and fatal outcome

1 reference

12 December 2020

Increased plasma levels of interleukin-6 in sepsis

1 reference

12 December 2020

Association between tumour necrosis factor in serum and fatal outcome in patients with meningococcal disease

1 reference

12 December 2020

Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis

1 reference

12 December 2020

Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination

1 reference

12 December 2020

The Stonehouse survey: nasopharyngeal carriage of meningococci and Neisseria lactamica

1 reference

12 December 2020

Congenital properdin deficiency and meningococcal infection

1 reference

12 December 2020

Human immunity to the meningococcus. I. The role of humoral antibodies

1 reference

12 December 2020

Human immunity to the meningococcus. II. Development of natural immunity

1 reference

12 December 2020

Interaction of Neisseria meningitidis with human nasopharyngeal mucosa: attachment and entry into columnar epithelial cells

1 reference

12 December 2020

Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency

1 reference

12 December 2020

Fulminant meningococcal infections in a family with inherited deficiency of properdin

1 reference

12 December 2020

Properdin deficiency in a family with fulminant meningococcal infections.

1 reference

12 December 2020

Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

1 reference

12 December 2020

Two Mutations in the Promoter Region of the Human Protein C Gene Both Cause Type I Protein C Deficiency by Disruption of Two HNF-3 Binding Sites

1 reference

12 December 2020

Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis

1 reference

12 December 2020

Opsonic activities of surfactant proteins A and D in phagocytosis of gram-negative bacteria by alveolar macrophages

1 reference

12 December 2020

Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families

1 reference

12 December 2020

Human immunoglobulin G (IgG) Fc receptor IIA (CD32) polymorphism and IgG2-mediated bacterial phagocytosis by neutrophils.

1 reference

12 December 2020

Fc gamma receptor IIa (CD32) polymorphism in fulminant meningococcal septic shock in children

1 reference

12 December 2020

Genetic basis of human complement C8 beta deficiency

1 reference

12 December 2020

Meningococcal disease in patients with late complement component deficiency: studies in the U.S.S.R.

1 reference

12 December 2020

Hereditary properdin deficiency in three families of Tunisian Jews

1 reference

12 December 2020

Complement deficiency states and meningococcal disease

1 reference

12 December 2020

Epidemic meningococcemia and purpura fulminans with induced protein C deficiency

1 reference

12 December 2020

A Low Serum Concentration of Mannan-Binding Protein is Not Associated with Serogroup B or C Meningococcal Disease

1 reference

12 December 2020

Recurrent meningococcal septicaemia and properdin deficiency

1 reference

12 December 2020

Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency

1 reference

12 December 2020

The molecular basis of hereditary complement factor I deficiency

1 reference

12 December 2020

Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals

1 reference

12 December 2020

Variation in the tumor necrosis factor-alpha gene promoter region may be associated with death from meningococcal disease

1 reference

12 December 2020

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

1 reference

12 December 2020

Genetic bases of human complement C7 deficiency

1 reference

12 December 2020

Pathophysiology, treatment and outcome of meningococcemia: a review and recent experience

1 reference

12 December 2020

Carcinoembryonic antigens (CD66) on epithelial cells and neutrophils are receptors for Opa proteins of pathogenic neisseriae

1 reference

12 December 2020

Genetic influence on cytokine production and fatal meningococcal disease

1 reference

12 December 2020

Molecular bases of C7 deficiency: three different defects

1 reference

12 December 2020

Fc gammaRIIIa-158V/F polymorphism influences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype

1 reference

12 December 2020

Homozygous Factor V Leiden mutation in a child with meningococcal purpura fulminans

1 reference

12 December 2020

Molecular defects leading to human complement component C6 deficiency in an African-American family

1 reference

12 December 2020

Meningococcal disease and polymorphism of FcgammaRIIa (CD32) in late complement component-deficient individuals

1 reference

12 December 2020

Complications and sequelae of meningococcal disease in Quebec, Canada, 1990-1994.

1 reference

12 December 2020

Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency

1 reference

12 December 2020

Genetic basis of human complement C8 alpha-gamma deficiency

1 reference

12 December 2020

Association of human Fc gamma RIIa (CD32) polymorphism with susceptibility to and severity of meningococcal disease

1 reference

12 December 2020

The molecular basis of C6 deficiency in the western Cape, South Africa

1 reference

12 December 2020

Assessment of complement deficiency in patients with meningococcal disease in The Netherlands

1 reference

12 December 2020

Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease

1 reference

12 December 2020

4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene and outcome of meningococcal disease

1 reference

12 December 2020

Variation in plasminogen-activator-inhibitor-1 gene and risk of meningococcal septic shock

1 reference

12 December 2020

Effect of the Factor V Leiden mutation on the severity of meningococcal disease

1 reference

12 December 2020

Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n)

1 reference

12 December 2020

The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals

1 reference

12 December 2020

TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

1 reference

12 December 2020

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies

1 reference

12 December 2020

An interleukin-1 genotype is associated with fatal outcome of meningococcal disease

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12 December 2020

Meningococcal disease

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12 December 2020

A family with complement factor D deficiency

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12 December 2020

A functional polymorphism of toll-like receptor 4 is not associated with likelihood or severity of meningococcal disease

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12 December 2020

Cytokines, chemokines and other effector molecules involved in meningococcal disease

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12 December 2020

Two naturally occurring variants of TAFI (Thr-325 and Ile-325) differ substantially with respect to thermal stability and antifibrinolytic activity of the enzyme.

1 reference

12 December 2020

Relevance of Fcgamma receptor and interleukin-10 polymorphisms for meningococcal disease

1 reference

12 December 2020

Associations between Fc gamma receptor IIA polymorphisms and the risk and prognosis of meningococcal disease

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12 December 2020

Investigation for complement deficiency following meningococcal disease

1 reference

12 December 2020

Homozygous hereditary C3 deficiency due to a premature stop codon

1 reference

12 December 2020

Pyogenic bacterial infections in humans with IRAK-4 deficiency

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12 December 2020

Variation within genes encoding interleukin-1 and the interleukin-1 receptor antagonist influence the severity of meningococcal disease.

1 reference

12 December 2020

FcγRIIa and FcγRIIIb polymorphisms were not associated with meningococcal disease in Western Norway

1 reference

12 December 2020

Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility

1 reference

12 December 2020

Pathophysiology of meningococcal meningitis and septicaemia

1 reference

12 December 2020

Sibling familial risk ratio of meningococcal disease in UK Caucasians.

1 reference

12 December 2020

Genomic polymorphic profiles in an Irish population with meningococcaemia: is it possible to predict severity and outcome of disease?

1 reference

12 December 2020

A functional single nucleotide polymorphism in the thrombin-activatable fibrinolysis inhibitor (TAFI) gene associates with outcome of meningococcal disease

1 reference

12 December 2020

Relevance of genetically determined host factors to the prognosis of meningococcal disease

1 reference

12 December 2020

Neisseria meningitidis: an overview of the carriage state

1 reference

12 December 2020

Meningococcus carrier rates and meningitis incidence

1 reference

12 December 2020

C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect

1 reference

12 December 2020

Complement component C7 deficiency in two Spanish families

1 reference

12 December 2020

Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease

1 reference

12 December 2020

Linking C5 deficiency to an exonic splicing enhancer mutation

1 reference

12 December 2020

Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency

1 reference

12 December 2020

4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene in children with systemic meningococcaemia

1 reference

12 December 2020

Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy

1 reference

12 December 2020

Polymorphisms in the Interleukin-1 Gene Cluster in Children and Young Adults with Systemic Meningococcemia

1 reference

12 December 2020

Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections

1 reference

12 December 2020

Molecular defects of the C7 gene in two patients with complement C7 deficiency.

1 reference

12 December 2020

Factor H, a regulator of complement activity, is a major determinant of meningococcal disease susceptibility in UK Caucasian patients

1 reference

12 December 2020

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

1 reference

12 December 2020

A systematic genetic analysis in Neisseria meningitidis defines the Pil proteins required for assembly, functionality, stabilization and export of type IV pili

1 reference

12 December 2020

Properdin deficiency in a boy with fulminant meningococcal septic shock

1 reference

12 December 2020

Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease.

1 reference

12 December 2020

Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family

1 reference

12 December 2020

Age-dependent association of human mannose-binding lectin mutations with susceptibility to invasive meningococcal disease in childhood

1 reference

12 December 2020

Protein C promoter polymorphisms associate with sepsis in children with systemic meningococcemia

1 reference

12 December 2020

C2 deficiency primary meningococcal arthritis of the elbow by Neisseria meningitidis serogroup Y in a 12-year old girl

1 reference

12 December 2020

4G4G genotype of the plasminogen activator inhibitor-1 promoter polymorphism associates with disseminated intravascular coagulation in children with systemic meningococcemia

1 reference

12 December 2020

Immunity to Neisseria meningitidis group B in adults despite lack of serum bactericidal antibody

1 reference

12 December 2020

Haplotypic diversity in human CEACAM genes: effects on susceptibility to meningococcal disease

1 reference

12 December 2020

Thrombin-activatable fibrinolysis inhibitor is associated with severity and outcome of severe meningococcal infection in children

1 reference

12 December 2020

Epidemiology, etiology, pathogenesis, and diagnosis of recurrent bacterial meningitis

1 reference

12 December 2020

Pyogenic bacterial infections in humans with MyD88 deficiency

1 reference

12 December 2020

A toll-like receptor 4 variant is associated with fatal outcome in children with invasive meningococcal disease

1 reference

12 December 2020

Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates

1 reference

12 December 2020

The tumor necrosis factor polymorphism TNF (-308) is associated with susceptibility to meningococcal sepsis, but not with lethality

1 reference

12 December 2020

Pathogenic neisseriae: surface modulation, pathogenesis and infection control

1 reference

12 December 2020

A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis.

1 reference

12 December 2020

Meningococcal carriage and disease--population biology and evolution

1 reference

12 December 2020

Genetic polymorphisms in host response to meningococcal infection: the role of susceptibility and severity genes

1 reference

12 December 2020

CD14 C-159T and toll-like receptor 4 Asp299Gly polymorphisms in surviving meningococcal disease patients

1 reference

12 December 2020

AN ANALYSIS OF FOUR HUNDRED CASES OF EPIDEMIC MENINGITIS TREATED WITH THE ANTI-MENINGITIS SERUM.

1 reference

12 December 2020

THE RESULTS OF THE SERUM TREATMENT IN THIRTEEN HUNDRED CASES OF EPIDEMIC MENINGITIS

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12 December 2020

Host genetics and outcome in meningococcal disease: a systematic review and meta-analysis

1 reference

12 December 2020

C7 deficiency and meningococcal infection susceptibility in two spanish families.

1 reference

12 December 2020

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

1 reference

12 December 2020

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

1 reference

12 December 2020

Single nucleotide polymorphisms in TLR9 are highly associated with susceptibility to bacterial meningitis in children

1 reference

12 December 2020

Toll-like Receptors and Their Crosstalk with Other Innate Receptors in Infection and Immunity

1 reference

12 December 2020

Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency

1 reference

12 December 2020

A novel mutation W388X underlying properdin deficiency in a Finnish family

1 reference

12 December 2020

Mechanism of meningeal invasion by Neisseria meningitidis

1 reference

12 December 2020

Meningococcal disease: clinical presentation and sequelae.

1 reference

12 December 2020

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion

1 reference

12 December 2020

Seasonality of meningitis in Africa and climate forcing: aerosols stand out.

1 reference

12 December 2020

Comparison of cytokine gene polymorphisms among Greek patients with invasive meningococcal disease or viral meningitis

1 reference

12 December 2020

Prevention and control of meningococcal disease: recommendations of the Advisory Committee on Immunization Practices (ACIP).

1 reference

12 December 2020

Emergence of serogroup X meningococcal disease in Africa: need for a vaccine

1 reference

12 December 2020

Meningococcal disease and the complement system

1 reference

12 December 2020

Deficiency in complement factor B.

1 reference

12 December 2020

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

1 reference

12 December 2020

IL-6 in inflammation, immunity, and disease

1 reference

12 December 2020

IRAK-4 and MyD88 deficiencies impair IgM responses against T-independent bacterial antigens

1 reference

12 December 2020

Competition between antagonistic complement factors for a single protein on N. meningitidis rules disease susceptibility

1 reference

12 December 2020

A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases

1 reference

12 December 2020

Susceptibility to invasive meningococcal disease: polymorphism of complement system genes and Neisseria meningitidis factor H binding protein

1 reference

12 December 2020

The 4G/4G Genotype of PAI-1 Polymorphism Is Associated with Higher Plasma PAI-1 Concentrations and Mortality in Patients with Severe Sepsis

1 reference

12 December 2020

Neisseria meningitidis infection: who, when and where?

1 reference

12 December 2020

Neisserial Molecular Adaptations to the Nasopharyngeal Niche

1 reference

12 December 2020

Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey

1 reference

12 December 2020

Mannose-Binding Lectin Gene, MBL2, Polymorphisms Do Not Increase Susceptibility to Invasive Meningococcal Disease in a Population of Danish Children

1 reference

12 December 2020

PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome

1 reference

12 December 2020

No Association of SERPINE1 -675 Polymorphism With Sepsis Susceptibility: A Meta-Analysis

1 reference

12 December 2020

Human genetic basis of interindividual variability in the course of infection

1 reference

12 December 2020

Severe infectious diseases of childhood as monogenic inborn errors of immunity

1 reference

12 December 2020

Systemic Lupus Erythematosus and Deficiencies of Early Components of the Complement Classical Pathway

1 reference

12 December 2020

Complement Factor H-Related Protein 3 Serum Levels Are Low Compared to Factor H and Mainly Determined by Gene Copy Number Variation in CFHR3

1 reference

12 December 2020

Invasive meningococcal disease in three siblings with hereditary deficiency of the 8(th) component of complement: evidence for the importance of an early diagnosis

1 reference

12 December 2020

Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

1 reference

12 December 2020

Effectiveness and impact of a reduced infant schedule of 4CMenB vaccine against group B meningococcal disease in England: a national observational cohort study.

1 reference

12 December 2020

Pathogenesis of meningococcal purpura fulminans.

1 reference

12 December 2020

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.

1 reference

12 December 2020

Epidemiology, clinical presentation, risk factors, intensive care admission and outcomes of invasive meningococcal disease in England, 2010-2015.

1 reference

12 December 2020

Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study

1 reference

12 December 2020

Environmental, economic and socio-cultural risk factors of recurrent seasonal epidemics of cerebrospinal meningitis in Kebbi state, northwestern Nigeria: a qualitative approach

1 reference

12 December 2020

Bacterial killing by complement requires membrane attack complex formation via surface-bound C5 convertases

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies

1 reference

12 December 2020

A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease

1 reference

12 December 2020

10.1007/S00439-020-02128-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32067109%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32067109%20AND%20SRC:MED&resulttype=core&format=json