Genetic deficiencies of innate immune signalling in human infectious disease (Q37619851)

21 August 2017

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title

Genetic deficiencies of innate immune signalling in human infectious disease (English)

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21 August 2017

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3

Tom H M Ottenhoff

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21 August 2017

Esther van de Vosse

1

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PubMed ID

19850227

21 August 2017

Jaap T van Dissel

series ordinal

2

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21 August 2017

1 November 2009

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Lancet Infectious Diseases

21 August 2017

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21 August 2017

9

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21 August 2017

11

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21 August 2017

688-698

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IL-23 modulates CD56+/CD3- NK cell and CD56+/CD3+ NK-like T cell function differentially from IL-12

21 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Biological function and distribution of human interleukin-12 receptor beta chain

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

The interleukin-12/interleukin-12-receptor system: role in normal and pathologic immune responses

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Cytokine regulation of IL-12 receptor beta2 expression: differential effects on human T and NK cells

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IL-23 and IL-12 responses in activated human T cells retrovirally transduced with IL-23 receptor variants

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Th17 cell differentiation: the long and winding road

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IL-22 mediates mucosal host defense against Gram-negative bacterial pneumonia

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Interleukin-22 mediates early host defense against attaching and effacing bacterial pathogens

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IL-22 is expressed by Th17 cells in an IL-23-dependent fashion, but not required for the development of autoimmune encephalomyelitis

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IL-23 and IL-17 in the establishment of protective pulmonary CD4+ T cell responses after vaccination and during Mycobacterium tuberculosis challenge

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Surface phenotype and antigenic specificity of human interleukin 17-producing T helper memory cells

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IL-27, a heterodimeric cytokine composed of EBI3 and p28 protein, induces proliferation of naive CD4+ T cells

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

WSX-1 and glycoprotein 130 constitute a signal-transducing receptor for IL-27

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

EBV-induced gene 3 transcription is induced by TLR signaling in primary dendritic cells via NF-kappa B activation.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Commensal Gram-negative bacteria prime human dendritic cells for enhanced IL-23 and IL-27 expression and enhanced Th1 development

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Extracellular nucleotide signaling by P2 receptors inhibits IL-12 and enhances IL-23 expression in human dendritic cells: a novel role for the cAMP pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Two-sided roles of IL-27: induction of Th1 differentiation on naive CD4+ T cells versus suppression of proinflammatory cytokine production including IL-23-induced IL-17 on activated CD4+ T cells partially through STAT3-dependent mechanism.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

The IL-27 receptor chain WSX-1 differentially regulates antibacterial immunity and survival during experimental tuberculosis

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IL-27 regulates IL-12 responsiveness of naive CD4+ T cells through Stat1-dependent and -independent mechanisms

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IL-27 and IFN-αSignal via Stat1 and Stat3 and Induce T-Bet and IL-12Rβ2 in Naive T Cells

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Human genetics of intracellular infectious diseases: molecular and cellular immunity against mycobacteria and salmonellae

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guérin infection

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Biliary cirrhosis in a child with inherited interleukin-12 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infections.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Variable outcome of experimental interferon-? therapy of disseminated Bacillus Calmette-Guerin infection in two unrelated interleukin-12R?1-deficient Slovakian children

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Paracoccidioides brasiliensis Disseminated Disease in a Patient with Inherited Deficiency in the 1 Subunit of the Interleukin (IL)-12/IL-23 Receptor

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Recurrent Salmonella bacteremia in interleukin-12 receptor beta1 deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Cutaneous leukocytoclastic vasculitis in a child with interleukin-12 receptor beta-1 deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Thirteen years of culture-positive M. bovis-BCG infection in an IL-12Rbeta1 deficient patient: treatment and outcome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Chinese patients with defective IL-12/23-interferon-gamma circuit in Taiwan: partial dominant interferon-gamma receptor 1 mutation presenting as cutaneous granuloma and IL-12 receptor beta1 mutation as pneumatocele.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Interleukin-12/-23 receptor beta 1 deficiency in an infant with draining BCG lymphadenitis

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Viral infections in interferon-gamma receptor deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A partial form of recessive STAT1 deficiency in humans

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Novel Mutation in the Interferon-γ-Receptor Gene and Susceptibility to Mycobacterial Infections

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-gamma receptor mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Human host genetic factors in mycobacterial and Salmonella infection: lessons from single gene disorders in IL-12/IL-23-dependent signaling that affect innate and adaptive immunity

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Pyogenic bacterial infections in humans with IRAK-4 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IRAK-4 mutation (Q293X): rapid detection and characterization of defective post-transcriptional TLR/IL-1R responses in human myeloid and non-myeloid cells

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Interleukin receptor-associated kinase-4 deficiency impairs Toll-like receptor-dependent innate antiviral immune responses.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Herpes simplex virus encephalitis in human UNC-93B deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Pyogenic bacterial infections in humans with MyD88 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

TLR3 deficiency in patients with herpes simplex encephalitis

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A missense mutation of the Toll-like receptor 3 gene in a patient with influenza-associated encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

STAT3 mutations in the hyper-IgE syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

STAT3Mutation in the Original Patient with Job's Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A novel mutation in the linker domain of the signal transducer and activator of transcription 3 gene, p.Lys531Glu, in hyper-IgE syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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)

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

LPS-TLR4 signaling to IRF-3/7 and NF-kappaB involves the toll adapters TRAM and TRIF

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Development of a clinical assay to evaluate toll-like receptor function.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Successful Allogeneic Hemopoietic Stem Cell Transplantation in a Child Who Had Anhidrotic Ectodermal Dysplasia With Immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Reduced memory B cells in patients with hyper IgE syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Requirement of interleukin-17A for systemic anti-Candida albicans host defense in mice

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Naturally occurring anti-IFN-gamma autoantibody and severe infections with Mycobacterium cheloneae and Burkholderia cocovenenans

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Anti-IFN-gamma autoantibodies in disseminated nontuberculous mycobacterial infections

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Acquired predisposition to mycobacterial disease due to autoantibodies to IFN-gamma

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Disseminated Mycobacterium avium complex infection in a patient with autoantibody to interferon-gamma.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Anti-interferon-gamma autoantibody in a patient with disseminated Mycobacterium avium complex

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6.

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

1 reference

https://api.crossref.org/works/10.1016%2FS1473-3099%2809%2970255-5

7 January 2021

10.1016/S1473-3099(09)70255-5

Identifiers

DOI

1 reference

21 August 2017

1 reference

PubMed ID

19850227