(Q41112798)

26 September 2017

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

1 reference

26 September 2017

2

1 reference

26 September 2017

6

1 reference

26 September 2017

Jean-Laurent Casanova

14

1 reference

26 September 2017

5

Jacinta Bustamante

0 references

Xavier Bossuyt

13

object named as

Xavier Bossuyt

1 reference

26 September 2017

12

László Maródi

1 reference

26 September 2017

7

Horst von Bernuth

1 reference

26 September 2017

4

Axel Jeurissen

1 reference

26 September 2017

10

Tatiana Lawrence

1 reference

26 September 2017

9

Huey-Hsuan Chang

1 reference

26 September 2017

Cheng-Lung Ku

1

1 reference

26 September 2017

Melinda Erdös

3

1 reference

26 September 2017

Orchidée Filipe-Santos

8

1 reference

26 September 2017

Marc Raes

11

1 reference

26 September 2017

language of work or name

English

0 references

publication date

1 September 2006

1 reference

Journal of Medical Genetics

26 September 2017

1 reference

26 September 2017

44

1 reference

26 September 2017

16-23

1 reference

26 September 2017

1

1 reference

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Inborn errors of immunity to infection: the rule rather than the exception

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Primary immunodeficiencies associated with pneumococcal disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Enzyme-linked immunosorbent assay for quantitation of human antibodies to pneumococcal polysaccharides

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Pyogenic bacterial infections in humans with IRAK-4 deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Invasive pneumococcal infections in children with asplenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Epidemiology of pneumococcal infections in Swedish children

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Epidemiology of Streptococcus pneumoniae infections at the Edinburgh City Hospital: 1980-95.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Homozygous deficiency of the second component of complement presenting with recurrent bacterial meningitis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Infectious diseases associated with complement deficiencies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Infection Caused by Streptococcus pneumoniae in Children with Sickle Cell Disease: Epidemiology, Immunologic Mechanisms, Prophylaxis, and Vaccination

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Impaired IgG responses in a child with homozygous C2 deficiency and recurrent pneumococcal septicaemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Paediatric, invasive pneumococcal disease in Switzerland, 1985-1994. Swiss Pneumococcal Study Group.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Epidemiology of invasive pneumococcal infections in children in Finland

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Recurrent meningitis associated with a petrous apex cephalocele

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Spontaneous cerebrospinal fluid otorrhoea via oval window: an obscure cause of recurrent meningitis.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

The human antibody response to pneumococcal capsular polysaccharides is dependent on the CD40-CD40 ligand interaction.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Recurrent Invasive Pneumococcal Disease: A Population-Based Assessment

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Recurrent pneumococcal meningitis in homozygous C3 deficiency

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Recurrent invasive pneumococcal disease in individuals with human immunodeficiency virus infection

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Eleven-year study of recurrent pneumococcal bacteremia

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Pneumococcal bacteremia in childhood: a 6-year experience in a community hospital

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Recurrent pneumococcal bacteremia. A warning of immunodeficiency

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

The epidemiology of invasive pneumococcal disease in Alaska, 1986-1990--ethnic differences and opportunities for prevention.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Septicaemia and adrenal haemorrhage in congenital asplenia

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Recurrent Pneumococcal Arthritis as the Presenting Manifestation of X-Linked Agammaglobulinemia

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

30 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

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

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2597905

Recurrent pneumococcal meningitis in a patient with transient IgG subclass deficiency

2 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency

1 reference

12 December 2020

Recurrent pneumococcal bacteremia: risk factors and outcomes

1 reference

12 December 2020

Fulminant pneumococcal infections in 'normal' asplenic hosts

1 reference

12 December 2020

Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia

1 reference

12 December 2020

An association between homozygous C3 deficiency and low levels of anti-pneumococcal capsular polysaccharide antibodies

1 reference

12 December 2020

Repeated invasive pneumococcal infections in young children without apparent underlying immunodeficiency

1 reference

12 December 2020

Recurrent Streptococcus pneumoniae sepsis in children with sickle cell disease

1 reference

12 December 2020

Recurrent pneumococcal bacteremia: 34 episodes in 15 patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.044446

1 reference

26 September 2017

1 reference

26 September 2017

1 reference