Clinical features of dominant and recessive interferon γ receptor 1 deficiencies (Q57014906)

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6 January 2020

title

Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies (English)

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6 January 2020

2

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Melanie J Newport

8

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6 January 2020

Michael Levin

9

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Jean-Laurent Casanova

12

object named as

Jean-Laurent Casanova

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Joachim Roesler

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6 January 2020

author name string

Susan E Dorman

1

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6 January 2020

David Lammas

3

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6 January 2020

Klaus Heyne

4

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6 January 2020

Jaap T van Dissel

5

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6 January 2020

Richard Baretto

6

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Sergio D Rosenzweig

7

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6 January 2020

Dinakantha Kumararatne

11

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Steven M Holland

13

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language of work or name

English

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publication date

1 December 2004

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6 January 2020

volume

364

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6 January 2020

page(s)

2113-2121

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6 January 2020

issue

9451

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

6 January 2020

cites work

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency

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7 January 2021

561del4 defines a novel small deletion hotspot in the interferon-gamma receptor 1 chain

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7 January 2021

Fatal Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency

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7 January 2021

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child

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7 January 2021

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

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7 January 2021

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

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7 January 2021

A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency

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7 January 2021

Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor

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7 January 2021

Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion

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7 January 2021

RecurrentMycobacterium aviumOsteomyelitis Associated With a Novel Dominant Interferon Gamma Receptor Mutation

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7 January 2021

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

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7 January 2021

Familial disseminated infection due to atypical mycobacteria with childhood onset

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7 January 2021

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

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7 January 2021

Fever and leg pain in a 42-month-old

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7 January 2021

Multifocal M. intracellulare osteomyelitis in an immunocompetent child

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7 January 2021

Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey

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7 January 2021

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

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7 January 2021

Viral infections in interferon-gamma receptor deficiency

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The role of interleukin-12 in human infectious diseases: only a faint signature

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

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

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Interferon-gamma and interleukin-12 pathway defects and human disease

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Treatment of infections in the patient with Mendelian susceptibility to mycobacterial infection

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7 January 2021

Interferon-γ receptor deficiency mimicking Langerhans’ cell histiocytosis

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7 January 2021

10.1016/S0140-6736(04)17552-1

Identifiers

DOI

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6 January 2020

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