RAG1 reversion mosaicism in a patient with Omenn syndrome (Q41437749)

30 September 2017

RAG1 reversion mosaicism in a patient with Omenn syndrome (English)

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30 September 2017

Francesco Frugoni

3

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Yu Nee Lee

object named as

Yu Nee Lee

4

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Luigi D Notarangelo

7

object named as

Luigi D Notarangelo

1 reference

30 September 2017

Elena Crestani

1

1 reference

30 September 2017

Sharon Choo

2

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30 September 2017

Stephanie Richards

5

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30 September 2017

Joanne Smart

6

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30 September 2017

10 May 2014

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Journal of Clinical Immunology

30 September 2017

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30 September 2017

34

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30 September 2017

5

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30 September 2017

551-554

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https://scigraph.springernature.com/pub.10.1007/s10875-014-0051-2

30 September 2017

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cites work

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074377

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074377

Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074377

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074377

Somatic mosaicism in primary immune deficiencies

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4074377

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

1 October 2017

1 reference

12 December 2020

Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells

1 reference

12 December 2020

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency

1 reference

12 December 2020

Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient

1 reference

12 December 2020

10.1007/S10875-014-0051-2

Identifiers

DOI

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Dimensions Publication ID

30 September 2017

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30 September 2017

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