Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway (Q47998022)

7 February 2018

review article

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title

Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway (English)

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7 February 2018

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7 February 2018

author name string

F Candotti

series ordinal

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7 February 2018

J J O'Shea

series ordinal

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7 February 2018

publication date

1 January 1998

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7 February 2018

Seminars in Immunopathology

published in

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7 February 2018

volume

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7 February 2018

issue

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7 February 2018

page(s)

401-415

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7 February 2018

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

cites work

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12 December 2020

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

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Human severe combined immunodeficiency disease: phenotypic and functional characteristics of peripheral B lymphocytes

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

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Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

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Growth signal transduction by the human interleukin-2 receptor requires cytoplasmic tyrosines of the beta chain and non-tyrosine residues of the gamma c chain.

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Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain.

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

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12 December 2020

Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency

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Crucial role of Jak3 in negative selection of self-reactive T cells.

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Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

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STATs and gene regulation

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Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

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12 December 2020

Retroviral-mediated gene correction for X-linked severe combined immunodeficiency

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12 December 2020

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

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12 December 2020

Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from gamma c transduced severe combined immunodeficiency X1 bone marrow cells

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12 December 2020

In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction

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12 December 2020

Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor gamma chain

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12 December 2020

Characterization of the human interleukin-2 receptor gamma chain gene

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12 December 2020

Defective lymphoid development in mice lacking Jak3

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12 December 2020

Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15

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12 December 2020

Role of the common cytokine receptor gamma chain in cytokine signaling and lymphoid development

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12 December 2020

Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the gamma-c gene

1 reference

12 December 2020

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI).

1 reference

12 December 2020

B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation

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12 December 2020

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

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12 December 2020

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

1 reference

12 December 2020

Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits

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12 December 2020

Variant forms of X-linked severe combined immunodeficiency disease: one or many genes?

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12 December 2020

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

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12 December 2020

Structure and function of a new STAT-induced STAT inhibitor

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12 December 2020

A family of cytokine-inducible inhibitors of signalling

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12 December 2020

JAK3: a novel JAK kinase associated with terminal differentiation of hematopoietic cells.

1 reference

12 December 2020

Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency

1 reference

12 December 2020

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene

1 reference

12 December 2020

Functional participation of the IL-2 receptor gamma chain in IL-7 receptor complexes

1 reference

12 December 2020

The role of shared receptor motifs and common Stat proteins in the generation of cytokine pleiotropy and redundancy by IL-2, IL-4, IL-7, IL-13, and IL-15.

1 reference

12 December 2020

IL2RGbase: a database of gamma c-chain defects causing human X-SCID

1 reference

12 December 2020

Regulation of JAK3 expression in human monocytes: phosphorylation in response to interleukins 2, 4, and 7

1 reference

12 December 2020

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

1 reference

12 December 2020

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

1 reference

12 December 2020

Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency

1 reference

12 December 2020

A novel X-linked combined immunodeficiency disease

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12 December 2020

Immunological reconstitution of sex-linked lymphopenic immunological deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding

1 reference

12 December 2020

The common cytokine receptor gamma chain plays an essential role in regulating lymphoid homeostasis

1 reference

12 December 2020

Defective lymphoid development in mice lacking expression of the common cytokine receptor gamma chain.

1 reference

12 December 2020

Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency

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12 December 2020

A new protein containing an SH2 domain that inhibits JAK kinases

1 reference

12 December 2020

Genomic sequence, organization, and chromosomal localization of human JAK3.

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12 December 2020

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

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12 December 2020

Developmental defects of lymphoid cells in Jak3 kinase-deficient mice.

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12 December 2020

Bone-marrow transplantation in a patient with the Wiskott-Aldrich syndrome

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12 December 2020

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

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12 December 2020

Bcl-2 rescues T lymphopoiesis, but not B or NK cell development, in common gamma chain-deficient mice

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12 December 2020

Genetic study of a new X-linked recessive immunodeficiency syndrome

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12 December 2020

A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells

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12 December 2020

gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function.

1 reference

12 December 2020

Naturally occurring primary deficiencies of the immune system

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12 December 2020

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

1 reference

12 December 2020

Structural and functional basis for JAK3-deficient severe combined immunodeficiency

1 reference

12 December 2020

Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase

1 reference

12 December 2020

A membrane-proximal region of the interleukin-2 receptor gamma c chain sufficient for Jak kinase activation and induction of proliferation in T cells.

1 reference

12 December 2020

JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors

1 reference

12 December 2020

Tyrosine phosphorylation and activation of STAT5, STAT3, and Janus kinases by interleukins 2 and 15

1 reference

12 December 2020

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

1 reference

12 December 2020

SH2 signaling in a lower eukaryote: a STAT protein that regulates stalk cell differentiation in dictyostelium.

1 reference

12 December 2020

Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3

1 reference

12 December 2020

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

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12 December 2020

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 reference

12 December 2020

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

1 reference

12 December 2020

Cloning and functional analysis of new members of STAT induced STAT inhibitor (SSI) family: SSI-2 and SSI-3

1 reference

12 December 2020

The JAK-STAT pathway in Drosophila

1 reference

12 December 2020

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

1 reference

12 December 2020

Postnatal development of T lymphocytes in a novel X-linked immunodeficiency disease

1 reference

12 December 2020

Peripheral expression of Jak3 is required to maintain T lymphocyte function

1 reference

12 December 2020

Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow

1 reference

12 December 2020

T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient

1 reference

12 December 2020

European experience of bone-marrow transplantation for severe combined immunodeficiency

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12 December 2020

Identifiers

DOI

10.1007/BF00792599

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7 February 2018

release_qt6kh67ohzflvbzwewjyl5awgy

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qt6kh67ohzflvbzwewjyl5awgy

24 November 2022

mapped directly with Wikidata item

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7 February 2018