Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries (Q35086274)

6 August 2017

title

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries (English)

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14

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120

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Jean-Laurent Casanova

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Francisco Espinosa-Rosales

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15

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Francisco Javier Espinosa-Rosales

95

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Ariane Chapgier

Ariane Chapgier

13

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Aurélie Cobat

Aurélie Cobat

4

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Darko Richter

Darko Richter

57

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Güzide Aksu

Guzide Aksu

100

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Anete S Grumach

Anete Sevciovic Grumach

92

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Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

5

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Jacinta Bustamante

Jacinta Bustamante

3

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Davood Mansouri

Davood Mansouri

27

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Masao Matsuoka

Masao Matsuoka

49

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Barbara Pietrucha

Barbara Pietrucha

42

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Malgorzata Pac

Malgorzata Pac

65

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Janine Reichenbach

Janine Reichenbach

39

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Bernhard Fleckenstein

68

Bernhard Fleckenstein

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51

Claire-Anne Siegrist

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Michael Levin

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Ayper Somer

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Ingrid Müller-Fleckenstein

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Ingrid Müller-Fleckenstein

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119

Claire Fieschi

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Gonul Tanir

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113

Nima Parvaneh

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Yildiz Camcioglu

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Nevin Hatipoglu

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Melike Keser

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Necil Kutukculer

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Jacqueline Feinberg

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Rainer Doffinger

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David Tuerlinckx

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Liliane Schandené

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Zobaida AlSum

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Matias Oleastro

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11

Xiao-Fei Kong

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32

Isabel Caragol

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97

Ahmed Aziz Bousfiha

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Suliman Al-Jumaah

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Ozden Sanal

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Walther H Haas

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Liliana Bezrodnik

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Jutta Bernhöft

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David Lammas

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Ludovic de Beaucoudrey

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Ludovic de Beaucoudrey

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Olle Jeppsson

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Lucile Jannière

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Klara Frecerova

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Chris Nieuwhof

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Maylis de Suremain

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Christiane Vermylen

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Kinda Schepers

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Joachim Freihorst

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Arina Samarina

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Judith Yancoski

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Filomeen Haerynck

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Figen Dogu

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Ben-Zion Garty

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Abdulaziz Al-Ghonaium

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Abdulaziz Al-Ghonaium

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Sulaiman Al-Ajaji

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Cigdem Aydogmus

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Saleh Al-Muhsen

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Yoann Rose

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Orchidée Filipe-Santos

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Aydan Ikinciogullari

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Sami Al-Hajjar

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Husn H Frayha

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Abdullah Alangari

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Parisa Adimi

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Imen Ben-Mustapha

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Carlos Rodriguez-Gallego

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Dinakantha S Kumararatne

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Smita Patel

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Andrew Exley

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David Nadal

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Yaryna Boyko

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Suzanne Anderson

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André Efira

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Françoise Mascart

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Tatsunori Sakai

50

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Renate Blüetters-Sawatzki

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Ulrich Baumann

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Frans De Baets

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Vas Novelli

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Jacob Levy

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Revathi Raj

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Aileen Cleary Cohen

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David B Lewis

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Steven M Holland

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Kuender D Yang

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Xiaochuan Wang

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Xiaohong Wang

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Liping Jiang

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Xiqiang Yang

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Chaomin Zhu

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Yuanyuan Xie

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Pamela Pui Wah Lee

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Koon Wing Chan

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Tong-Xin Chen

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Gabriela Castro

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Ivelisse Natera

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Ana Codoceo

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Alejandra King

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Daniela Di Giovani

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Maria Isabel Gaillard

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Dewton de Moraes-Vasconcelos

91

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Alberto Jose da Silva Duarte

93

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Ruth Aldana

94

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Mohammed Bejaoui

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Jamila El Baghdadi

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Namik Ozbek

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Suna Asilsoy

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Saniye Gülle

107

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Tuba T Ozgur

108

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Meteran Ozen

109

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Andrea Bernasconi

111

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Setareh Mamishi

112

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Sergio Rosenzweig

114

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Ridha Barbouche

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Sigifredo Pedraza

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Yu Lung Lau

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Mohammad S Ehlayel

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6 August 2017

language of work or name

English

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publication date

1 November 2010

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6 August 2017

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6 August 2017

volume

89

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6 August 2017

issue

6

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6 August 2017

page(s)

381-402

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Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions

6 August 2017

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

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

8 July 2018

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8 July 2018

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

8 July 2018

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Influenza virus vaccination induces interleukin-12/23 receptor beta 1 (IL-12/23R beta 1)-independent production of gamma interferon (IFN-gamma) and humoral immunity in patients with genetic deficiencies in IL-12/23R beta 1 or IFN-gamma receptor I.

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Optimal induction of T helper 17 cells in humans requires T cell receptor ligation in the context of Toll-like receptor-activated monocytes.

8 July 2018

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8 July 2018

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Interleukins 1beta and 6 but not transforming growth factor-beta are essential for the differentiation of interleukin 17-producing human T helper cells

8 July 2018

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Development, cytokine profile and function of human interleukin 17-producing helper T cells

8 July 2018

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Differentiation and function of Th17 T cells

8 July 2018

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Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

8 July 2018

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Tuberculosis in children and adults: two distinct genetic diseases

8 July 2018

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Divergent roles of IL-23 and IL-12 in host defense against Klebsiella pneumoniae

8 July 2018

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Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children.

8 July 2018

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How are gene sequence analyses modifying bacterial taxonomy? The case of Klebsiella

8 July 2018

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Automated identification of single nucleotide polymorphisms from sequencing data

8 July 2018

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IL-12 receptor deficiency revisited: IL-23-mediated signaling is also impaired in human genetic IL-12 receptor beta1 deficiency

8 July 2018

1 reference

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

8 July 2018

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Impaired accumulation and function of memory CD4 T cells in human IL-12 receptor beta 1 deficiency

8 July 2018

1 reference

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Human non-synonymous SNPs: server and survey

8 July 2018

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

8 July 2018

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Genetic dissection of immunity to mycobacteria: the human model

8 July 2018

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Missense mutation of the interleukin-12 receptor beta1 chain-encoding gene is associated with impaired immunity against Mycobacterium avium complex infection

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor beta1 (IL-12Rbeta1): evidence for an IL-12Rbeta1-independent pathway of IL-12 responsiveness in human 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=3129625

Multiple sequence alignment with Clustal X

8 July 2018

1 reference

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Impairment of mycobacterial immunity in human interleukin-12 receptor 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=3129625

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Recurrent infections caused by Salmonella typhimurium

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Recurrent Salmonella bacteremia in interleukin-12 receptor beta1 deficiency

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

IL-12-independent Th1 polarization in human mononuclear cells infected with varicella-zoster virus

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Disseminated histoplasmosis in persons with interferon-gamma receptor 1 deficiency

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Interleukin-17 and lung host defense against Klebsiella pneumoniae infection

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Disseminated Mycobacterium avium infection in a child with decreased tumour necrosis factor production

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

16 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Syk- and CARD9-dependent coupling of innate immunity to the induction of T helper cells that produce interleukin 17

16 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3129625

Severe mycobacterial infections in two pairs of Chinese siblings with interleukin-12 receptor beta1 deficiency

16 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolated cutaneous response to granulocyte-monocyte colony stimulating factor in fatal idiopathic disseminated Bacillus-Calmette-Guerin infection

1 reference

12 December 2020

MYCOBACTERIUM FORTUITUM-CHELONAE COMPLEX INFECTION IN A CHILD WITH COMPLETE INTERLEUKIN-12 RECEPTOR BETA 1 DEFICIENCY

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12 December 2020

Human host defense and cytokines in mycobacterial infectious diseases: interleukin-18 cannot compensate for genetic defects in the interleukin-12 system

1 reference

12 December 2020

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

12 December 2020

Defective handling of mycobacteria

1 reference

12 December 2020

[Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination).]

1 reference

12 December 2020

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

1 reference

12 December 2020

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

1 reference

12 December 2020

Resistant Mycobacterium bovis disseminated infection

1 reference

12 December 2020

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

1 reference

12 December 2020

Residual Type 1 Immunity in Patients Genetically Deficient for Interleukin 12 Receptor β1 (IL-12Rβ1)

1 reference

12 December 2020

10.1097/MD.0B013E3181FDD832

Identifiers

DOI

1 reference

6 August 2017

1 reference

6 August 2017

1 reference