(Q40301875)

19 September 2017

The multiple causes of human SCID. (English)

1 reference

19 September 2017

Rebecca H Buckley

1

1 reference

PMC publication ID

525750

19 September 2017

language of work or name

English

0 references

publication date

1 November 2004

1 reference

Journal of Clinical Investigation

19 September 2017

1 reference

19 September 2017

114

1 reference

19 September 2017

10

1 reference

19 September 2017

1409-1411

1 reference

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

19 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

CD45: a critical regulator of signaling thresholds in immune cells

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

RAG mutations in human B cell-negative SCID.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=525750

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

20 August 2018

1 reference

12 December 2020

[Essential lymphocytophthisis; new clinical aspect of infant pathology.]

1 reference

12 December 2020

Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI23571

1 reference

19 September 2017

1 reference

PMC publication ID

525750

19 September 2017

PubMed publication ID

15545990

1 reference

PMC publication ID

525750