Genetic studies in severe combined immunodeficiency. (Q40411004)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

20 October 2019

review article

1 reference

title

Genetic studies in severe combined immunodeficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

severe combined immunodeficiency

20 October 2019

main subject

1 reference

Geneviève de Saint Basile

inferred from title

author

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

20 October 2019

James P Di Santo

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

20 October 2019

author name string

A Fischer

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

20 October 2019

publication date

1 September 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

Clinical Immunology and Immunopathology

20 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

20 October 2019

volume

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

20 October 2019

issue

3 Pt 2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

20 October 2019

page(s)

S165-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

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

20 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

The IL-2/IL-2 receptor system: a current overview

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

Heterodimerization of the IL-2 receptor beta- and gamma-chain cytoplasmic domains is required for signalling

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

Evidence for a critical role for the cytoplasmic region of the interleukin 2 (IL-2) receptor gamma chain in IL-2, IL-4, and IL-7 signalling

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immunodeficiency disease

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

Preferential utilization of the immature JH segment and absence of somatic mutation in the CDR3 junction of the Ig H chain gene in three X-linked severe combined immunodeficiency patients

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

Genetic study of a new X-linked recessive immunodeficiency syndrome

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

A novel X-linked combined immunodeficiency disease

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0090-1229(95)90090-X

7 January 2021

10.1016/S0090-1229(95)90090-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7554461 AND SRC:MED&resulttype=core&format=json

release_gw7qhy5fdzhaxgsxjqvpqchxlu

20 October 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gw7qhy5fdzhaxgsxjqvpqchxlu

24 November 2022

mapped directly with Wikidata item

1 reference