(Q83769537)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22460439%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22460439%20AND%20SRC:MED&resulttype=core&format=json

severe combined immunodeficiency

27 January 2020

main subject

1 reference

7

1 reference

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27 January 2020

Kohsuke Imai

10

1 reference

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27 January 2020

Katsuyuki Ohmori

14

1 reference

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27 January 2020

author name string

Tomoki Kawai

1

1 reference

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27 January 2020

Megumu Saito

2

1 reference

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27 January 2020

Ryuta Nishikomori

3

1 reference

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27 January 2020

Takahiro Yasumi

4

1 reference

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27 January 2020

Kazushi Izawa

5

1 reference

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27 January 2020

Tomohiko Murakami

6

1 reference

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27 January 2020

Yasuko Mori

8

1 reference

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27 January 2020

Noriko Nakagawa

9

1 reference

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27 January 2020

Shigeaki Nonoyama

11

1 reference

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27 January 2020

Taizo Wada

12

1 reference

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27 January 2020

Akihiro Yachie

13

1 reference

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27 January 2020

Tatsutoshi Nakahata

15

1 reference

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27 January 2020

Toshio Heike

16

1 reference

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27 January 2020

publication date

30 March 2012

1 reference

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Journal of Clinical Immunology

27 January 2020

published in

1 reference

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27 January 2020

volume

32

1 reference

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27 January 2020

issue

4

1 reference

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27 January 2020

page(s)

690-697

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10875-012-9684-1

27 January 2020

exact match

0 references

cites work

In vivo reversion to normal of inherited mutations in humans

1 reference

12 December 2020

T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation

1 reference

12 December 2020

Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Primary immunodeficiency diseases: dissectors of the immune system

1 reference

12 December 2020

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

1 reference

12 December 2020

Measurement of varicella-zoster virus (VZV)-specific cell-mediated immunity: comparison between VZV skin test and interferon-gamma enzyme-linked immunospot assay

1 reference

12 December 2020

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival

1 reference

12 December 2020

Diagnostic Skin Test Reactions with Varicella Virus Antigen and Clinical Application of the Test

1 reference

12 December 2020

Improved splice site detection in Genie

1 reference

12 December 2020

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

1 reference

12 December 2020

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome

1 reference

12 December 2020

Human alpha beta and gamma delta thymocyte development: TCR gene rearrangements, intracellular TCR beta expression, and gamma delta developmental potential--differences between men and mice

1 reference

12 December 2020

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

1 reference

12 December 2020

CD8alpha alpha memory effector T cells descend directly from clonally expanded CD8alpha +beta high TCRalpha beta T cells in vivo

1 reference

12 December 2020

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

1 reference

12 December 2020

Population biology of lymphocytes: the flight for survival

1 reference

12 December 2020

Phenotype and function of human T lymphocyte subsets: consensus and issues

1 reference

12 December 2020