(Q37052403)

17 August 2017

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

1 reference

17 August 2017

1 reference

1 reference

Daniel E Maddox

7

0 references

Francesco Frugoni

object named as

Francesco Frugoni

6

0 references

Yu Nee Lee

object named as

Yu Nee Lee

5

0 references

Luigi D Notarangelo

9

object named as

Luigi D Notarangelo

1 reference

17 August 2017

Roshini S Abraham

1

1 reference

17 August 2017

Mike Recher

2

1 reference

17 August 2017

Silvia Giliani

3

1 reference

17 August 2017

Jolan E Walter

4

1 reference

17 August 2017

Salman Kirmani

8

1 reference

17 August 2017

language of work or name

English

0 references

publication date

2 November 2012

1 reference

The Journal of Allergy and Clinical Immunology

17 August 2017

1 reference

17 August 2017

131

1 reference

17 August 2017

5

1 reference

17 August 2017

1421-1423

1 reference

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725988

Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725988

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725988

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.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725988

Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency

29 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23122631

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/23122631

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Highly variable clinical phenotypes of hypomorphic RAG1 mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23122631

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2012.09.016

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23122631

1 reference