(Q35776008)

10 August 2017

title

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders (English)

1 reference

common variable immunodeficiency

10 August 2017

main subject

1 reference

Yu Nee Lee

3

0 references

Luigi D Notarangelo

16

object named as

Luigi D Notarangelo

1 reference

10 August 2017

7

Diane Nugent

1 reference

10 August 2017

1

David Buchbinder

1 reference

10 August 2017

Rebecca Baker

2

1 reference

10 August 2017

Juan Ravell

4

1 reference

10 August 2017

Yu Zhang

5

1 reference

10 August 2017

Joshua McElwee

6

1 reference

10 August 2017

Emily M Coonrod

8

1 reference

10 August 2017

Jacob D Durtschi

9

1 reference

10 August 2017

Nancy H Augustine

10

1 reference

10 August 2017

Karl V Voelkerding

11

1 reference

10 August 2017

Krisztian Csomos

12

1 reference

10 August 2017

Lindsey Rosen

13

1 reference

10 August 2017

Sarah Browne

14

1 reference

10 August 2017

Jolan E Walter

15

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10 August 2017

Harry R Hill

17

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10 August 2017

Attila Kumánovics

18

1 reference

10 August 2017

publication date

17 December 2014

1 reference

Journal of Clinical Immunology

10 August 2017

published in

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10 August 2017

volume

35

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10 August 2017

issue

2

1 reference

10 August 2017

page(s)

119-124

1 reference

https://scigraph.springernature.com/pub.10.1007/s10875-014-0121-5

10 August 2017

exact match

0 references

cites work

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Granulomatous inflammation: The overlap of immune deficiency and inflammation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Discovery of single-gene inborn errors of immunity by next generation sequencing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

RAG mutations in human B cell-negative SCID.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

An immunodeficiency disease with RAG mutations and granulomas

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4479182

Prenatal diagnosis of RAG-deficient Omenn syndrome

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25516070

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25516070

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10875-014-0121-5

1 reference

10 August 2017

1 reference

10 August 2017

1 reference