(Q36384624)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Andrea Finocchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Anna Villa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

11

Luigi D Notarangelo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Ponpan Matangkasombut

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Doris E Saez

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Silvia Giliani

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Evelina Mazzolari

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Cristina Sobacchi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Patricia Cortes

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Dale T Umetsu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

language of work or name

English

0 references

publication date

21 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

111

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

271-274

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model

8 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

30 September 2017

The biology of NKT cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

RAG-dependent primary immunodeficiencies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Expansion and long-range differentiation of the NKT cell lineage in mice expressing CD1d exclusively on cortical thymocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

AIRE deficiency in thymus of 2 patients with Omenn syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

alpha-Galactosylceramide therapy for autoimmune diseases: prospects and obstacles

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Constitutive Cytokine mRNAs Mark Natural Killer (NK) and NK T Cells Poised for Rapid Effector Function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

The regulatory role of Valpha14 NKT cells in innate and acquired immune response.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Partial V(D)J recombination activity leads to Omenn syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

CD1d-restricted and TCR-mediated activation of valpha14 NKT cells by glycosylceramides

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Host NKT cells can prevent graft-versus-host disease and permit graft antitumor activity after bone marrow transplantation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Genetic evidence supporting selection of the Valpha14i NKT cell lineage from double-positive thymocyte precursors

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Unequal signal and coding joint formation in human V(D)J recombination

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2200812

Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17890453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17890453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17890453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2007-06-096487

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17890453%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

17890453

1 reference