Inherited disorders of human Toll-like receptor signaling: immunological implications. (Q34386299)

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7 January 2020

review article

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title

Inherited disorders of human Toll-like receptor signaling: immunological implications (English)

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7 January 2020

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4

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7 January 2020

Capucine Picard

10

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7 January 2020

Jean-Laurent Casanova

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7 January 2020

Cheng-Lung Ku

1

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7 January 2020

Jacinta Bustamante

3

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Horst von Bernuth

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7 January 2020

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Orchidée Filipe Santos

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Orchidée Filipe Santos

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7 January 2020

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Tatiana Lawrence

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Tatiana Lawrence

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7 January 2020

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Huey-Hsuan Chang

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Huey-Hsuan Chang

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7 January 2020

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author name string

Kun Yang

2

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7 January 2020

Hamoud Al-Mousa

9

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publication date

1 February 2005

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7 January 2020

published in

Immunological Reviews

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7 January 2020

volume

203

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7 January 2020

page(s)

10-20

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7 January 2020

1 reference

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Innate immune sensing and its roots: the story of endotoxin

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Defective LPS Signaling in C3H/HeJ and C57BL/10ScCr Mice: Mutations in Tlr4 Gene

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Inferences, questions and possibilities in Toll-like receptor signalling

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Toll-like receptor signalling

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From phenomenon to phenotype and from phenotype to gene: forward genetics and the problem of sepsis

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Toll-like receptors and the host defense against microbial pathogens: bringing specificity to the innate-immune system

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Toll-like receptors and their role in experimental models of microbial infection

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The human model: a genetic dissection of immunity to infection in natural conditions

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

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Toll-like receptor (TLR) 2 and 4 mutations in periodontal disease.

21 January 2018

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Inherited disorders of NF-kappaB-mediated immunity in man.

21 January 2018

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Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.

21 January 2018

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A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

21 January 2018

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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

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Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

21 January 2018

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Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma)

21 January 2018

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Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

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The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation

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Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).

21 January 2018

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Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

21 January 2018

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Genetic dissection of immunity to mycobacteria: the human model

21 January 2018

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

21 January 2018

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The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

21 January 2018

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Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

21 January 2018

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Primary immunodeficiencies associated with pneumococcal disease

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Pyogenic bacterial infections in humans with IRAK-4 deficiency

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Interleukin 12 deficiency associated with recurrent infections

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Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections

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Primary immunodeficiency to pneumococcal infection due to a defect in Toll-like receptor signaling.

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Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses

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Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?

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Innate immune recognition

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A Common Dominant TLR5 Stop Codon Polymorphism Abolishes Flagellin Signaling and Is Associated with Susceptibility to Legionnaires' Disease

21 January 2018

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Bruton's tyrosine kinase (Btk)-the critical tyrosine kinase in LPS signalling?

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A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

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10.1111/J.0105-2896.2005.00235.X

21 January 2018

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15661018%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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