(Q40616676)

22 September 2017

title

Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation (English)

1 reference

22 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14615376

1 April 2024

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

1 April 2024

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

1 April 2024

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

1 April 2024

4

Min Chen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14615376

1 April 2024

author name string

Andrea Lengi

2

1 reference

22 September 2017

Yong-Jie Zhou

5

1 reference

22 September 2017

Joseph L. Roberts

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14615376

1 April 2024

Stephanie M. Brown

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14615376

1 April 2024

John J. O'Shea

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14615376

1 April 2024

Rebecca H. Buckley

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14615376

1 April 2024

language of work or name

English

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publication date

13 November 2003

1 reference

full work available at URL

22 September 2017

published in

Blood

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22 September 2017

volume

103

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22 September 2017

issue

6

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22 September 2017

page(s)

2009-2018

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Severe combined immunodeficiency disease. Characterization of the disease and results of transplantation

22 September 2017

cites work

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Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency

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Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease

1 April 2024

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Cloning of the gamma chain of the human IL-2 receptor

1 April 2024

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Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor

1 April 2024

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Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4

1 April 2024

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Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor

1 April 2024

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Sharing of the IL-2 receptor gamma chain with the functional IL-9 receptor complex

1 April 2024

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Cutting edge: the common gamma-chain is an indispensable subunit of the IL-21 receptor complex

1 April 2024

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Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes

1 April 2024

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Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells

1 April 2024

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Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID

1 April 2024

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Signaling via the IL-2 and IL-7 receptors from the membrane to the nucleus

1 April 2024

27

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Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine.

1 April 2024

28

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice

1 April 2024

29

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

IL-15 receptor maintains lymphoid homeostasis by supporting lymphocyte homing and proliferation

1 April 2024

30

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Jaks, STATs, cytokine signal transduction, and immunoregulation: are we there yet?

1 April 2024

31

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Mutation in the Jak kinase JH2 domain hyperactivates Drosophila and mammalian Jak-Stat pathways

1 April 2024

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1 reference

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Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains

1 April 2024

33

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Regulation of the Jak2 tyrosine kinase by its pseudokinase domain

1 April 2024

34

1 reference

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A dual role for the kinase-like domain of the tyrosine kinase Tyk2 in interferon-alpha signaling

1 April 2024

35

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

The N-termini of FAK and JAKs contain divergent band 4.1 domains

1 April 2024

36

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Structural basis of the membrane-targeting and unmasking mechanisms of the radixin FERM domain

1 April 2024

37

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain

1 April 2024

38

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases

1 April 2024

39

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

A JAK1/JAK2 chimera can sustain alpha and gamma interferon responses.

1 April 2024

40

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

1 April 2024

41

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.

1 April 2024

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Serum IgD and IgE concentrations in immunodeficiency diseases

1 April 2024

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Immunologic responses to bacteriophage ϕX 174 in immunodeficiency diseases

1 April 2024

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Distinct tyrosine phosphorylation sites in JAK3 kinase domain positively and negatively regulate its enzymatic activity

1 April 2024

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1 reference

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Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways.

1 April 2024

52

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Detection of intracellular phosphorylated STAT-1 by flow cytometry

1 April 2024

53

1 reference

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The amino terminus of JAK3 is necessary and sufficient for binding to the common gamma chain and confers the ability to transmit interleukin 2-mediated signals

1 April 2024

54

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain

1 April 2024

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Mechanism and regulation of immunoglobulin isotype switching.

1 April 2024

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Interleukin 4 receptor: signaling mechanisms

1 April 2024

58

1 reference

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Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways.

1 April 2024

59

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

A critical role for IL-21 in regulating immunoglobulin production

1 April 2024

61

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Interleukin 21 and its receptor are involved in NK cell expansion and regulation of lymphocyte function

1 April 2024

62

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

IL-21 limits NK cell responses and promotes antigen-specific T cell activation: a mediator of the transition from innate to adaptive immunity

1 April 2024

63

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

1 April 2024

64

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy

1 April 2024

65

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer

1 April 2024

66

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Virus-specific immunity after gene therapy in a murine model of severe combined immunodeficiency

1 April 2024

67

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Self-selection by genetically modified committed lymphocyte precursors reverses the phenotype of JAK3-deficient mice without myeloablation

1 April 2024

68

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Jaks and STATs: biological implications

1 April 2024

69

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Constitutively Activated Jak-STAT Pathway in T Cells Transformed with HTLV-I

1 April 2024

70

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Activation of Jak/STAT proteins involved in signal transduction pathway mediated by receptor for interleukin 2 in malignant T lymphocytes derived from cutaneous anaplastic large T-cell lymphoma and Sezary syndrome

1 April 2024

71

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Jak-STAT signaling induced by the v-abl oncogene

1 April 2024

72

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

Inhibition of acute lymphoblastic leukaemia by a Jak-2 inhibitor

1 April 2024

73

1 reference

https://api.crossref.org/works/10.1182/BLOOD-2003-06-2104

1 April 2024

Identifiers

1 reference

22 September 2017

1 reference