Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency (Q35012945)

5 August 2017

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

1 reference

pyogenic bacterial infections due to MyD88 deficiency

5 August 2017

1 reference

1

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5 August 2017

56

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5 August 2017

57

1 reference

5 August 2017

Jean-Laurent Casanova

58

1 reference

5 August 2017

Pegah Ghandil

3

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Maya Chrabieh

Maya Chrabieh

4

0 references

Laia Alsina

Laia Alsina

50

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Peter D Arkwright

Peter D Arkwright

6

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Carlos Rodrigo

Carlos Rodrigo

46

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Juan I Arostegui

Juan Ignacio Aróstegui

49

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Joseph B Domachowske

Joseph Domachowske

30

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Janine Reichenbach

Janine Reichenbach

52

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Adrian Thrasher

Adrian J Thrasher

37

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Ofer Levy

Ofer Levy

5

0 references

Stephan Ehl

13

Stephan Ehl

1 reference

5 August 2017

Clarence Buddy Creech

11

C Buddy Creech

1 reference

5 August 2017

42

Yildiz Camcioglu

1 reference

5 August 2017

32

Mimi Tang

1 reference

5 August 2017

55

Rainer Doffinger

1 reference

5 August 2017

54

Xavier Bossuyt

1 reference

5 August 2017

14

László Maródi

1 reference

5 August 2017

2

Horst von Bernuth

1 reference

5 August 2017

29

Shigeaki Nonoyama

1 reference

5 August 2017

24

Elena Colino

1 reference

5 August 2017

18

Noorbibi K Day-Good

1 reference

5 August 2017

35

Cyrille Hoarau

1 reference

5 August 2017

51

Claudia Fortuny

1 reference

5 August 2017

45

Artur Bonito Vitor

1 reference

5 August 2017

25

Ben-Zion Garty

1 reference

5 August 2017

Abdulaziz Al-Ghonaium

17

Abdulaziz Al-Ghonaium

1 reference

5 August 2017

31

Andrew C Issekutz

1 reference

5 August 2017

34

Simona Eva Zitnik

1 reference

5 August 2017

Douglas McDonald

7

1 reference

5 August 2017

Raif S Geha

8

1 reference

5 August 2017

Hidetoshi Takada

9

1 reference

5 August 2017

Jens C Krause

10

1 reference

5 August 2017

Cheng-Lung Ku

12

1 reference

5 August 2017

Saleh Al-Muhsen

15

1 reference

5 August 2017

Sami Al-Hajjar

16

1 reference

5 August 2017

Steven M Holland

19

1 reference

5 August 2017

John I Gallin

20

1 reference

5 August 2017

Helen Chapel

21

1 reference

5 August 2017

David P Speert

22

1 reference

5 August 2017

Carlos Rodriguez-Gallego

23

1 reference

5 August 2017

Chaim Roifman

26

1 reference

5 August 2017

Toshiro Hara

27

1 reference

5 August 2017

Hideto Yoshikawa

28

1 reference

5 August 2017

Joanne Smart

33

1 reference

5 August 2017

Dinakantha S Kumararatne

36

1 reference

5 August 2017

E Graham Davies

38

1 reference

5 August 2017

Claire Bethune

39

1 reference

5 August 2017

Nicolas Sirvent

40

1 reference

5 August 2017

Dominique de Ricaud

41

1 reference

5 August 2017

Júlia Vasconcelos

43

1 reference

5 August 2017

Margarida Guedes

44

1 reference

5 August 2017

Francisco Almazán

47

1 reference

5 August 2017

Maria Méndez

48

1 reference

5 August 2017

James W Verbsky

53

1 reference

5 August 2017

language of work or name

English

0 references

publication date

1 November 2010

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5 August 2017

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5 August 2017

89

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5 August 2017

403-425

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5 August 2017

6

1 reference

Combined immunodeficiency associated with DOCK8 mutations

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Human genetics of infectious diseases: between proof of principle and paradigm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Skewed pattern of Toll-like receptor 4-mediated cytokine production in human neonatal blood: low LPS-induced IL-12p70 and high IL-10 persist throughout the first month of life.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Approaching the asymptote: 20 years later

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Pyogenic bacterial infections in humans with MyD88 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

IL-1, IL-18, and IL-33 families of cytokines

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Defective innate immunity predisposes murine neonates to poor sepsis outcome but is reversed by TLR agonists.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

TLR3 deficiency in patients with herpes simplex encephalitis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Primary immunodeficiencies: a field in its infancy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

IRAK-4--a shared NF-kappaB activator in innate and acquired immunity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Herpes simplex virus encephalitis in human UNC-93B deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Mendelian traits that confer predisposition or resistance to specific infections in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

SIGIRR inhibits interleukin-1 receptor- and toll-like receptor 4-mediated signaling through different mechanisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Toll-like receptors in innate immunity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Toll-like receptor signalling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Primary immunodeficiencies associated with pneumococcal disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Pyogenic bacterial infections in humans with IRAK-4 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

IRAK-4 as the central TIR signaling mediator in innate immunity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Human C-reactive protein: expression, structure, and function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Interleukin 12 deficiency associated with recurrent infections

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

The neonatal blood count in health and disease.I. Reference values for neutrophilic cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Toll-like receptor responses in IRAK-4-deficient neutrophils

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Very late-onset group B Streptococcus meningitis, sepsis, and systemic shigellosis due to interleukin-1 receptor-associated kinase-4 deficiency.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Endotoxin and IL-1 hyporesponsiveness in a patient with recurrent bacterial infections.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

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

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103888

Interleukin-1beta and the autoinflammatory diseases

9 December 2018

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

C-reactive protein increases cytokine responses to Streptococcus pneumoniae through interactions with Fc gamma receptors

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

10.1097/MD.0B013E3181FD8EC3

Identifiers

DOI

1 reference

5 August 2017

1 reference

5 August 2017

1 reference