AIRE deficiency in thymus of 2 patients with Omenn syndrome (Q33778516)

29 July 2017

AIRE deficiency in thymus of 2 patients with Omenn syndrome (English)

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29 July 2017

10

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Luigi D Notarangelo

11

object named as

Luigi D Notarangelo

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29 July 2017

2

William Vermi

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29 July 2017

7

Anna Sediva

1 reference

29 July 2017

6

Evelina Mazzolari

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29 July 2017

8

Veronica Marrella

1 reference

29 July 2017

Patrizia Cavadini

1

1 reference

29 July 2017

Fabio Facchetti

3

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29 July 2017

Stefania Fontana

4

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29 July 2017

Seiho Nagafuchi

5

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29 July 2017

Anna Villa

9

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29 July 2017

Raffaele Badolato

12

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29 July 2017

language of work or name

English

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publication date

1 March 2005

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Journal of Clinical Investigation

29 July 2017

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29 July 2017

115

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29 July 2017

3

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29 July 2017

728-732

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Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Human primary immunodeficiency diseases: a perspective

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

The origin of FOXP3-expressing CD4+ regulatory T cells: thymus or periphery

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Lymphotoxin pathway directs thymic Aire expression

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Thymic medullary epithelial cell differentiation, thymocyte emigration, and the control of autoimmunity require lympho-epithelial cross talk via LTbetaR.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Aire regulates negative selection of organ-specific T cells

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Projection of an immunological self shadow within the thymus by the aire protein

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Positional cloning of the APECED gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

RAG mutations in human B cell-negative SCID.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

Familial Reticuloendotheliosis with Eosinophilia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=546458

T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly

30 October 2018

1 reference

12 December 2020

Lymph node pathology in primary combined immunodeficiency diseases

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12 December 2020

Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome

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12 December 2020

RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

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

Expression of AIRE gene in peripheral monocyte/dendritic cell lineage

1 reference

12 December 2020

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

1 reference

12 December 2020

[Severe combined immune deficiency with hypereosinophilia. Immunologic study of 5 cases]

1 reference

12 December 2020

Combined immunodeficiency and reticuloendotheliosis with eosinophilia

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI23087

1 reference

29 July 2017

1 reference

29 July 2017

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