A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome (Q35762099)

10 August 2017

title

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome (English)

1 reference

10 August 2017

12

Marina Cavazzana-Calvo

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Luigi D Notarangelo

14

Luigi D Notarangelo

1 reference

10 August 2017

Maria Grazia Roncarolo

11

Maria Grazia Roncarolo

1 reference

10 August 2017

Manuela Battaglia

10

1 reference

ORCID Public Data File 2021

Fabio Grassi

Fabio Grassi

16

1 reference

ORCID Public Data File 2021

Marita Bosticardo

8

Marita Bosticardo

1 reference

10 August 2017

Veronica Marrella

1

1 reference

10 August 2017

Pietro Luigi Poliani

2

1 reference

10 August 2017

Anna Casati

3

1 reference

10 August 2017

Francesca Rucci

4

1 reference

10 August 2017

Laura Frascoli

5

1 reference

10 August 2017

Marie-Lise Gougeon

6

1 reference

10 August 2017

Brigitte Lemercier

7

1 reference

10 August 2017

Maria Ravanini

9

1 reference

10 August 2017

Fabio Facchetti

13

1 reference

10 August 2017

Paolo Vezzoni

15

1 reference

10 August 2017

Anna Villa

17

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10 August 2017

language of work or name

English

0 references

publication date

1 May 2007

1 reference

Journal of Clinical Investigation

10 August 2017

published in

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10 August 2017

volume

117

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10 August 2017

issue

5

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10 August 2017

page(s)

1260-1269

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RAG-dependent primary immunodeficiencies.

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Foxp3+ CD25+ CD4+ natural regulatory T cells in dominant self-tolerance and autoimmune disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Immunodeficiencies with autoimmune consequences.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

AIRE deficiency in thymus of 2 patients with Omenn syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Homeostatic expansion of T cells during immune insufficiency generates autoimmunity.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Aire regulates negative selection of organ-specific T cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

The genetic and biochemical basis of Omenn syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Molecular and cellular aspects of induced thymus development in recombinase-deficient mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

RAG mutations in human B cell-negative SCID.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

The sizes of the CDR3 hypervariable regions of the murine T-cell receptor beta chains vary as a function of the recombined germ-line segments

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Two waves of recombinase gene expression in developing thymocytes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

The effect of antigen dose on CD4+ T helper cell phenotype development in a T cell receptor-alpha beta-transgenic model

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

The cellular mechanism of Aire control of T cell tolerance.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Omenn syndrome due to ARTEMIS mutations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

IgMhighCD21high lymphocytes enriched in the splenic marginal zone generate effector cells more rapidly than the bulk of follicular B cells.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Early function of Pax5 (BSAP) before the pre-B cell receptor stage of B lymphopoiesis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Familial Reticuloendotheliosis with Eosinophilia

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857243

Combination of MHC-peptide multimer-based T cell sorting with the Immunoscope permits sensitive ex vivo quantitation and follow-up of human CD8+ T cell immune responses

15 November 2018

1 reference

12 December 2020

Epithelial heterogeneity in the murine thymus: a cell surface glycoprotein expressed by subcapsular and medullary epithelium

1 reference

12 December 2020

Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome

1 reference

12 December 2020

RAG2:GFP Knockin Mice Reveal Novel Aspects of RAG2 Expression in Primary and Peripheral Lymphoid Tissues

1 reference

12 December 2020

Omenn syndrome in an infant with IL7RA gene mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI30928

1 reference

10 August 2017

1 reference

10 August 2017

1 reference