(Q35369925)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Jesús Reiné

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

María José Recio

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

José R Regueiro

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Juana Gil

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Elena M Busto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Carmen Chean

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Maria Cruz García-Rodríguez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Andrea Díaz-Alderete

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Joaquín Navarro

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Angeles Mencía

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Dolores Gurbindo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Cristina Beléndez

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Isabel Gordillo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Marlena Duchniewicz

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Kerstin Höhne

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Félix García-Sánchez

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Eduardo Fernández-Cruz

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Eduardo López-Granados

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Miguel A Moreno-Pelayo

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Wolfgang W A Schamel

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

language of work or name

English

0 references

publication date

19 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

12 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

3872-3876

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

12 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Primary immunodeficiencies: 2009 update

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Primary immune deficiencies with aberrant IgE production

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Unravelling the association of partial T-cell immunodeficiency and immune dysregulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Different composition of the human and the mouse gammadelta T cell receptor explains different phenotypes of CD3gamma and CD3delta immunodeficiencies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Molecular basis for pre-TCR-mediated autonomous signaling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

A variant of SCID with specific immune responses and predominance of gamma delta T cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

CD3 delta deficiency arrests development of the alpha beta but not the gamma delta T cell lineage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Signal transduction by lymphocyte antigen receptors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

Positive selection through a motif in the alphabeta T cell receptor

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3195454

On the role of CD3delta chains in TCRgammadelta/CD3 complexes during assembly and membrane expression

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21926461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21926461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI44254

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21926461%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

21926461

1 reference