(Q37678515)

21 August 2017

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development (English)

1 reference

21 August 2017

Harry Malech

6

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Andrew R Gennery

7

object named as

Andrew Gennery

1 reference

21 August 2017

4

Mirjam van der Burg

1 reference

21 August 2017

Xiaomin Yu

1

1 reference

21 August 2017

Jorge R Almeida

2

1 reference

21 August 2017

Sam Darko

3

1 reference

21 August 2017

Suk See DeRavin

5

1 reference

21 August 2017

Ivan Chinn

8

1 reference

21 August 2017

Mary Louise Markert

9

1 reference

21 August 2017

Daniel C Douek

10

1 reference

21 August 2017

Joshua D Milner

11

1 reference

21 August 2017

language of work or name

English

0 references

publication date

7 January 2014

1 reference

21 August 2017

7

1 reference

The Journal of Allergy and Clinical Immunology

inferred from page(s)

published in

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21 August 2017

133

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21 August 2017

4

1 reference

21 August 2017

1109-1115

1 reference

describes a project that uses

21 August 2017

1 reference

10 June 2022

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=3972286

cites work

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Unbiased molecular analysis of T cell receptor expression using template-switch anchored RT-PCR

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Partially corrected X-linked severe combined immunodeficiency: long-term problems and treatment options

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

T cell homeostasis in steady state and lymphopenic conditions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

RAG-dependent primary immunodeficiencies.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

The genetic and biochemical basis of Omenn syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Mechanistic constraints on diversity in human V(D)J recombination

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Lack of N regions in antigen receptor variable region genes of TdT-deficient lymphocytes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Regulation of N-region diversity in antigen receptors through thymocyte differentiation and thymus ontogeny

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Omenn syndrome does not live by V(D)J recombination alone.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Rearrangement of genetic information may produce immunoglobulin diversity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3- T cells in complete DiGeorge anomaly.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Two compensatory pathways maintain long-term stability and diversity in CD8 T cell memory repertoires.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Omenn syndrome due to ARTEMIS mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972286

Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24406074

12 December 2020

inferred from PubMed ID database lookup

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24406074

12 December 2020

inferred from PubMed ID database lookup

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/24406074

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.JACI.2013.11.018

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24406074

1 reference