Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency (Q22008480)

cell surface receptor signaling pathway

GOA release 2020-03-11

1 reference

severe combined immunodeficiency

GOA release 2020-03-11

1 reference

A Puel

1

Anne

Puel

1 reference

25 August 2022

S F Ziegler

2

Steven F.

Ziegler

1 reference

1024424756

25 August 2022

R H Buckley

series ordinal

3

author given names

Rebecca H.

author last names

Buckley

1 reference

1024424756

25 August 2022

W J Leonard

series ordinal

4

author given names

Warren J.

author last names

Leonard.

1 reference

1024424756

The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling

25 August 2022

language of work or name

English

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publication date

December 1998

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published in

Nature Genetics

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volume

20

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issue

4

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page(s)

394-7

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cites work

1 reference

Naturally occurring primary deficiencies of the immune system

21 January 2018

1 reference

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

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1 reference

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

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1 reference

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

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1 reference

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

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1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Prevention of T cell anergy by signaling through the gamma c chain of the IL-2 receptor

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Interleukin-7 receptor alpha is essential for the development of gamma delta + T cells, but not natural killer cells

21 January 2018

1 reference

Natural and engineered disorders of lymphocyte development

21 January 2018

1 reference

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

21 January 2018

1 reference

Differential effects of interleukin-15 and interleukin-2 on differentiation of bipotential T/natural killer progenitor cells

21 January 2018

1 reference

Organization of the murine and human interleukin-7 receptor genes: two mRNAs generated by differential splicing and presence of a type I-interferon-inducible promoter

21 January 2018

1 reference

Cloning of the human and murine interleukin-7 receptors: demonstration of a soluble form and homology to a new receptor superfamily

21 January 2018

1 reference

LIGAND: A versatile computerized approach for characterization of ligand-binding systems

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1 reference

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.

21 January 2018

1 reference

Delineation of the regions of interleukin-2 (IL-2) receptor beta chain important for association of Jak1 and Jak3. Jak1-independent functional recruitment of Jak3 to Il-2Rbeta

21 January 2018

1 reference

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

21 January 2018

1 reference