(Q36228741)

12 August 2017

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

1 reference

12 August 2017

6

1 reference

12 August 2017

10

1 reference

12 August 2017

18

1 reference

12 August 2017

32

1 reference

12 August 2017

Jean-Laurent Casanova

37

1 reference

12 August 2017

Jacinta Bustamante

2

0 references

Anne Durandy

Anne Durandy

12

0 references

Guillaume Vogt

Guillaume Vogt

15

0 references

Ariane Chapgier

Ariane Chapgier

14

0 references

Frederic Geissmann

Frédéric Geissmann

27

0 references

Luigi D Notarangelo

25

Luigi Notarangelo

1 reference

12 August 2017

26

Christine Bodemer

1 reference

12 August 2017

17

Claire Fieschi

1 reference

12 August 2017

23

Necil Kutukculer

1 reference

12 August 2017

11

Jacqueline Feinberg

1 reference

12 August 2017

24

Alessandro Plebani

1 reference

12 August 2017

13

Brigitte Senechal

1 reference

12 August 2017

9

Horst von Bernuth

1 reference

12 August 2017

34

Dominique Gendrel

1 reference

12 August 2017

33

Klaus Magdorf

1 reference

12 August 2017

20

Jalel Chemli

1 reference

12 August 2017

Orchidée Filipe-Santos

1

1 reference

12 August 2017

Margje H Haverkamp

3

1 reference

12 August 2017

Emilie Vinolo

4

1 reference

12 August 2017

Cheng-Lung Ku

5

1 reference

12 August 2017

David M Frucht

7

1 reference

12 August 2017

Karin Christel

8

1 reference

12 August 2017

Ludovic de Beaucoudrey

16

1 reference

12 August 2017

Meriem Garfa

19

1 reference

12 August 2017

Mohamed Bejaoui

21

1 reference

12 August 2017

Maria N Tsolia

22

1 reference

12 August 2017

Alain Israël

28

1 reference

12 August 2017

Michel Véron

29

1 reference

12 August 2017

Maike Knackstedt

30

1 reference

12 August 2017

Ridha Barbouche

31

1 reference

12 August 2017

Fabrice Agou

35

1 reference

12 August 2017

Steven M Holland

36

1 reference

12 August 2017

language of work or name

English

0 references

publication date

3 July 2006

1 reference

Journal of Experimental Medicine

12 August 2017

1 reference

12 August 2017

203

1 reference

12 August 2017

7

1 reference

12 August 2017

1745-1759

1 reference

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

The trimerization domain of NEMO is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Cross-talk between CD40 and CD40L: lessons from primary immune deficiencies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Stimulation of IKK-gamma oligomerization by the human T-cell leukemia virus oncoprotein Tax.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

NEMO trimerizes through its coiled-coil C-terminal domain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Genetic dissection of immunity to mycobacteria: the human model

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Role of CD40 ligand in Mycobacterium avium infection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

IL-12-Independent costimulation pathways for interferon-gamma production in familial disseminated Mycobacterium avium complex infection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Core structure of gp41 from the HIV envelope glycoprotein

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Ligation of CD40 on dendritic cells triggers production of high levels of interleukin-12 and enhances T cell stimulatory capacity: T-T help via APC activation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Blocking the CD40L-CD40 interaction in vivo specifically prevents the priming of T helper 1 cells through the inhibition of interleukin 12 secretion

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Treatment of refractory disseminated nontuberculous mycobacterial infection with interferon gamma. A preliminary report

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Rosacea-Like Lesions due to Familial Mycobacterium avium-intracellulare Infection

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

Tuberculosis in children and adults: two distinct genetic diseases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

CD40 ligand is not essential for the development of cell-mediated immunity and resistance to Mycobacterium tuberculosis

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

The inducing role of tumor necrosis factor in the development of bactericidal granulomas during BCG infection

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

CD40 is required for the optimal induction of protective immunity to Mycobacterium avium

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2118353

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

22 September 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20060085

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20060085

Clinical spectrum of X-linked hyper-IgM syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20060085

Functional defects of dendritic cells in patients with CD40 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1084%2FJEM.20060085

Dendritic cell development and survival require distinct NF-kappaB subunits

21 January 2018

1 reference

12 December 2020

Cutting Edge: Identification of c-Rel-Dependent and -Independent Pathways of IL-12 Production During Infectious and Inflammatory Stimuli

1 reference

12 December 2020

CD40, but not CD40L, is required for the optimal priming of T cells and control of aerosol M. tuberculosis infection

1 reference

12 December 2020

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

1 reference

12 December 2020

Regulation of T cell-dependent and -independent IL-12 production by the three Th2-type cytokines IL-10, IL-6, and IL-4

1 reference

12 December 2020

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

12 December 2020

Activated T cells induce interleukin-12 production by monocytes via CD40-CD40 ligand interaction

1 reference

12 December 2020

Immunological conditions of children with BCG disseminated infection

1 reference

12 December 2020

Defective monocyte costimulation for IFN-gamma production in familial disseminated Mycobacterium avium complex infection: abnormal IL-12 regulation

1 reference

12 December 2020

Accessory signaling by CD40 for T cell activation: induction of Th1 and Th2 cytokines and synergy with interleukin-12 for interferon-gamma production

1 reference

12 December 2020

Identifiers

DOI

10.1084/JEM.20060085

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

16818673

1 reference