Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3 (Q24561574)

6 November 2023

6

Marina Cavazzana-Calvo

author given names

Marina

author last names

Cavazzana-Calvo

1 reference

Geneviève de Saint Basile

6 November 2023

series ordinal

1

object named as

Geneviève de Saint Basile

author given names

Geneviève

author last names

de Saint Basile

1 reference

6 November 2023

10

Françoise Le Deist

Françoise

Le Deist

1 reference

6 November 2023

8

Nada Jabado

Nada

Jabado

1 reference

6 November 2023

Claire Soudais

5

Claire

Soudais

1 reference

6 November 2023

Frédéric Geissmann

2

Frédéric

Geissmann

1 reference

6 November 2023

Anne Durandy

7

Anne

Durandy

1 reference

6 November 2023

Elisabeth Flori

3

Elisabeth

Flori

1 reference

6 November 2023

Béatrice Uring-Lambert

series ordinal

4

author given names

Béatrice

author last names

Uring-Lambert

1 reference

Journal of Clinical Investigation

6 November 2023

language of work or name

English

0 references

publication date

November 2004

0 references

published in

0 references

volume

114

0 references

issue

10

0 references

page(s)

1512-7

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Mechanisms contributing to T cell receptor signaling and assembly revealed by the solution structure of an ectodomain fragment of the CD3 epsilon gamma heterodimer

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Biochemical differences in the alphabeta T cell receptor.CD3 surface complex between CD8+ and CD4+ human mature T lymphocytes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Developing a new paradigm for thymus organogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Development of alphabeta T cells in the human thymus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

A deletion in the gene encoding the CD45 antigen in a patient with SCID.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Microenvironmental regulation of T cell development in the thymus.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Function of CD3 epsilon-mediated signals in T cell development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

The CD3gamma chain is essential for development of both the TCRalphabeta and TCRgammadelta lineages

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

The molecular basis of X-linked severe combined immunodeficiency: the role of the interleukin-2 receptor gamma chain as a common gamma chain, gamma c.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

The interleukin-7 receptor gene is at 5p13.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

RAG mutations in human B cell-negative SCID.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

A study on CD45 isoform expression during T-cell development and selection events in the human thymus

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525745

Conformational and Biochemical Differences in the TCR·CD3 Complex of CD8+VersusCD4+Mature Lymphocytes Revealed in the Absence of CD3γ

28 November 2018

1 reference

12 December 2020

CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection

1 reference

12 December 2020

Primary immunodeficiency diseases: an update

1 reference

12 December 2020

Immunoenzymatic labeling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal anti-alkaline phosphatase (APAAP complexes)

1 reference

12 December 2020

Severe congenital leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes

1 reference

12 December 2020

Expression of a CD3 epsilon transgene in CD3 epsilon(null) mice does not restore CD3 gamma and delta expression but efficiently rescues T cell development from a subpopulation of prothymocytes

1 reference

12 December 2020

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

1 reference

12 December 2020

Prevalence of lymphocytopenia in severe combined immunodeficiency

1 reference

12 December 2020

Selective disbalances of peripheral blood T lymphocyte subsets in human CD3 gamma deficiency

1 reference

12 December 2020

T lymphocyte signalling defects and immunodeficiency due to the lack of CD3 gamma

1 reference

12 December 2020

Characterization of the region involved in CD3 pairwise interactions within the T cell receptor complex

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI22588

1 reference

release_kjw4r4kxr5g7xozv3rc5h6s57i

Fatcat ID

0 references

1 reference

1 reference

1 reference