Hypomorphic Rag mutations can cause destructive midline granulomatous disease (Q34122665)

31 July 2017

Hypomorphic Rag mutations can cause destructive midline granulomatous disease (English)

1 reference

31 July 2017

Yu Nee Lee

10

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Netanya G. Sandler

Netanya G Sandler

6

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Julie E. Niemela

Julie E Niemela

16

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Pietro Luigi Poliani

Pietro L Poliani

9

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Harry Malech

Harry L Malech

19

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Kol A Zarember

Kol A Zarember

3

0 references

Luigi D Notarangelo

11

Luigi D Notarangelo

1 reference

31 July 2017

8

Stefania Pittaluga

1 reference

31 July 2017

1

Suk See De Ravin

1 reference

31 July 2017

5

Douglas B Kuhns

1 reference

31 July 2017

14

Elizabeth M Kang

1 reference

31 July 2017

Edward W Cowen

2

1 reference

31 July 2017

Narda L Whiting-Theobald

4

1 reference

31 July 2017

Daniel C Douek

7

1 reference

31 July 2017

Lei Wang

12

1 reference

31 July 2017

Frederick W Alt

13

1 reference

31 July 2017

Joshua D Milner

15

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31 July 2017

Mary Fontana-Penn

17

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31 July 2017

Sara H Sinal

18

1 reference

31 July 2017

language of work or name

English

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publication date

20 May 2010

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31 July 2017

9

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inferred from page(s)

published in

Blood

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31 July 2017

116

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31 July 2017

8

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31 July 2017

1263-1271

1 reference

Thymus microenvironment in human primary immunodeficiency diseases.

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

B-cell depletion in autoimmune diseases. Advances in autoimmunity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

B cell depletion with rituximab in patients with diffuse cutaneous systemic sclerosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Omenn syndrome with mutation in RAG1 gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental models

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Safety, efficacy, and immune reconstitution after rituximab therapy in pediatric patients with chronic or refractory hematologic autoimmune cytopenias.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

A central role for central tolerance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Cellular and molecular events during early thymus development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

AIRE deficiency in thymus of 2 patients with Omenn syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Restraining the V(D)J recombinase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Aire regulates negative selection of organ-specific T cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

The "dispensable" portion of RAG2 is necessary for efficient V-to-DJ rearrangement during B and T cell development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

V(D)J recombination: RAG proteins, repair factors, and regulation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Increased ionizing radiation sensitivity and genomic instability in the absence of histone H2AX

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Factors and forces controlling V(D)J recombination

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Temperature-sensitive transformation by an Abelson virus mutant encoding an altered SH2 domain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Genetic, biochemical, and clinical features of chronic granulomatous disease.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

An interleukin-2 receptor gamma chain mutation with normal thymus morphology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Caseating cutaneous granulomas in a child with common variable immunodeficiency.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Procedural guidelines for performing immunophenotyping by flow cytometry

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Enforced BCL2 expression in B-lymphoid cells prolongs antibody responses and elicits autoimmune disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

An autoinflammatory disease due to homozygous deletion of the IL1RN locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

An immunodeficiency disease with RAG mutations and granulomas

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

A specific anti-Aire antibody reveals aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Long-term results of bone marrow transplantation in complete DiGeorge syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

The cellular mechanism of Aire control of T cell tolerance.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Idiopathic midline destructive disease: fact or fiction.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Thymic generation and regeneration

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

T/NK cell non-Hodgkin's lymphoma of the sinonasal tract

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2938237

Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency

28 October 2018

1 reference

12 December 2020

[Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency]

1 reference

12 December 2020

Claudins provide a breath of fresh Aire

1 reference

12 December 2020

Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome

1 reference

12 December 2020

Treatment of infants with complete DiGeorge anomaly

1 reference

12 December 2020

Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells

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

Interpretation of head and neck biopsies in Wegener's granulomatosis. A pathologic study of 126 biopsies in 70 patients

1 reference

12 December 2020

Immune constitution of complete DiGeorge anomaly by transplantation of unmobilised blood mononuclear cells

1 reference

12 December 2020

Cutaneous granulomatous lesions in common variable immunodeficiency: complete resolution after intravenous immunoglobulins

1 reference

12 December 2020

10.1182/BLOOD-2010-02-267583

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference