(Q34409707)

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Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763205%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763205%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Autosomal recessive hyper IgE syndrome

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Talal A Chatila

8

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763205%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Jennifer M Puck

7

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Jennifer M Puck

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Europe PubMed Central

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7 February 2020

6

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Sevgi Keles

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Europe PubMed Central

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7 February 2020

author name string

Majed Dasouki

1

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7 February 2020

Kingsley C Okonkwo

2

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7 February 2020

Abhishek Ray

3

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Europe PubMed Central

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7 February 2020

Caspian K Folmsbeel

4

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Europe PubMed Central

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7 February 2020

Diana Gozales

5

1 reference

Europe PubMed Central

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7 February 2020

publication date

21 June 2011

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7 February 2020

Clinical Immunology

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763205%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

141

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Europe PubMed Central

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7 February 2020

2

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7 February 2020

128-132

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Europe PubMed Central

PMC publication ID

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7 February 2020

Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

A multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Combined immunodeficiency associated with DOCK8 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Evaluation and clinical interpretation of hypergammaglobulinemia E: differentiating atopy from immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Neonatal screening for severe combined immune deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

STAT3 mutations in the hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

GEF what? Dock180 and related proteins help Rac to polarize cells in new ways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

CZH proteins: a new family of Rho-GEFs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Development of population-based newborn screening for severe combined immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Genetic linkage of hyper-IgE syndrome to chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

6 July 2018

Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

27 October 2018

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4210456

27 October 2018

Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21763205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Changes in thymic function with age and during the treatment of HIV infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/21763205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Statewide newborn screening for severe T-cell lymphopenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21763205

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.CLIM.2011.06.003

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763205%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763205%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21763205%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

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