(Q37416868)

20 August 2017

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity (English)

1 reference

20 August 2017

Francesco Frugoni

2

0 references

Yu Nee Lee

object named as

Yu Nee Lee

6

0 references

Luigi D Notarangelo

9

object named as

Luigi D Notarangelo

1 reference

20 August 2017

Lauren A Henderson

1

1 reference

20 August 2017

Gregory Hopkins

3

1 reference

20 August 2017

Helen de Boer

4

1 reference

20 August 2017

Sung-Yun Pai

5

1 reference

20 August 2017

Jolan E Walter

7

1 reference

20 August 2017

Melissa M Hazen

8

1 reference

20 August 2017

language of work or name

English

0 references

publication date

24 July 2013

1 reference

The Journal of Allergy and Clinical Immunology

20 August 2017

1 reference

20 August 2017

132

1 reference

20 August 2017

4

1 reference

20 August 2017

969-71.e1-2

1 reference

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874115

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874115

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874115

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874115

RAG mutations in human B cell-negative SCID.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874115

An immunodeficiency disease with RAG mutations and granulomas

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874115

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23891352

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/23891352

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23891352

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2013.06.032

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

23891352

1 reference