Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome (Q81557477)

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scientific article published on 01 July 2008

Language	Label	Description	Also known as
English	Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome	scientific article published on 01 July 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Line Ohm-Laursen

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Søren Thue Lillevang

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Torben Barington

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Christian Nielsen

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Niels Fisker

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

1 July 2008

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Journal of Clinical Immunology

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

28

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

588-592

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18592361%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAG-dependent primary immunodeficiencies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence for the use of DIR, D-D fusions, chromosome 15 open reading frames or VH replacement in the peripheral repertoire was found on application of an improved algorithm, JointML, to 6329 human immunoglobulin H rearrangements.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Repertoire selection by pre-B-cell receptors and B-cell receptors, and genetic control of B-cell development from immature to mature B cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic and biochemical basis of Omenn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reference values for immunoglobulin kappa and lambda light chains and the kappa/lambda ratio in children's serum

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAG mutations in human B cell-negative SCID.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple rearrangements in T cell receptor alpha chain genes maximize the production of useful thymocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanisms governing reading frame choice of immunoglobulin diversity genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

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

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human alpha beta and gamma delta thymocyte development: TCR gene rearrangements, intracellular TCR beta expression, and gamma delta developmental potential--differences between men and mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human Ig heavy chain antigen binding complementarity determining region 3 using a newly developed software algorithm, JOINSOLVER.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulation of immunoglobulin light chain gene rearrangements during early B cell development in the human

1 reference

https://pubmed.ncbi.nlm.nih.gov/18592361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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