Unexpected and variable phenotypes in a family with JAK3 deficiency (Q40758303)

23 September 2017

title

Unexpected and variable phenotypes in a family with JAK3 deficiency (English)

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23 September 2017

D M Frucht

1

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23 September 2017

M Gadina

2

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23 September 2017

G J Jagadeesh

3

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23 September 2017

I Aksentijevich

4

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23 September 2017

K Takada

5

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23 September 2017

J J Bleesing

6

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23 September 2017

J Nelson

7

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23 September 2017

L M Muul

8

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23 September 2017

G Perham

9

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23 September 2017

G Morgan

10

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23 September 2017

E J Gerritsen

11

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23 September 2017

R F Schumacher

12

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23 September 2017

P Mella

13

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23 September 2017

P A Veys

14

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23 September 2017

T A Fleisher

15

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23 September 2017

E R Kaminski

16

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23 September 2017

L D Notarangelo

17

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23 September 2017

J J O'Shea

18

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23 September 2017

F Candotti

19

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23 September 2017

language of work or name

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1 December 2001

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23 September 2017

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23 September 2017

volume

2

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23 September 2017

issue

8

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23 September 2017

page(s)

422-432

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Jaks and STATs: biological implications

23 September 2017

cites work

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

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7 January 2021

Defective lymphoid development in mice lacking Jak3

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

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

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

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

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Reversible defects in natural killer and memory CD8 T cell lineages in interleukin 15-deficient mice

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Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta

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Interleukin-2 receptor α chain regulates the size and content of the peripheral lymphoid compartment

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Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting

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

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A profound deficiency in thymic progenitor cells in mice lacking Jak3.

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Assessment of T-cell receptor beta-chain diversity by heteroduplex analysis

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Uncoupling IL-2 signals that regulate T cell proliferation, survival, and Fas-mediated activation-induced cell death

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain

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Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

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

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

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An interleukin-2 receptor gamma chain mutation with normal thymus morphology

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Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization

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7 January 2021

Cutting edge: two distinct mechanisms lead to impaired T cell homeostasis in Janus kinase 3- and CTLA-4-deficient mice

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7 January 2021

T cell development and activation in Jak3-deficient mice

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7 January 2021

Peripheral expression of Jak3 is required to maintain T lymphocyte function

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7 January 2021

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

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7 January 2021

Stat5 is required for IL-2-induced cell cycle progression of peripheral T cells

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7 January 2021

Mature T lymphocyte apoptosis--immune regulation in a dynamic and unpredictable antigenic environment

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7 January 2021

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The complete 685-kilobase DNA sequence of the human beta T cell receptor locus

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7 January 2021

Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2.

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7 January 2021

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

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7 January 2021

Cloning and expression of Stat5 and an additional homologue (Stat5b) involved in prolactin signal transduction in mouse mammary tissue

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7 January 2021

Identifiers

DOI

10.1038/SJ.GENE.6363802

1 reference

23 September 2017

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