(Q42204762)

English

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray

scientific article published on December 2014

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scholarly article

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Europe PubMed Central

PubMed publication ID

18 October 2017

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 October 2017

maternal health

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1 reference

based on heuristic

inferred from title

severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

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13 June 2020

Ian M. Campbell

18

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13 June 2020

Jordan S. Orange

23

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13 June 2020

Gail J Demmler-Harrison

5

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G J Demmler-Harrison

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13 June 2020

author name string

C A Martinez

2

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13 June 2020

H S Sorte

3

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13 June 2020

L R Forbes

4

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13 June 2020

I C Hanson

6

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13 June 2020

N M Pearson

7

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13 June 2020

L M Noroski

8

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13 June 2020

S R Zaki

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13 June 2020

W J Bellini

10

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13 June 2020

M S Leduc

11

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13 June 2020

Y Yang

12

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13 June 2020

C M Eng

13

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13 June 2020

A Patel

14

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13 June 2020

O K Rodningen

15

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

D M Muzny

16

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

R A Gibbs

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

C A Shaw

19

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

M W Baker

20

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13 June 2020

V Zhang

21

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

J R Lupski

22

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

F O Seeborg

24

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

A Stray-Pedersen

25

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13 June 2020

publication date

1 December 2014

1 reference

Europe PubMed Central

PubMed publication ID

18 October 2017

Clinical and Experimental Immunology

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

178

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

459-469

1 reference

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PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25046553%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

1 reference

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30 September 2018

Detection of clinically relevant copy number variants with whole-exome sequencing.

1 reference

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30 September 2018

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238873

30 September 2018

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

1 reference

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30 September 2018

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

1 reference

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30 September 2018

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

1 reference

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30 September 2018

Advisory Committee on Immunization Practices (ACIP) recommended immunization schedule for persons aged 0 through 18 years--United States, 2013.

1 reference

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30 September 2018

Neutropenia in primary immunodeficiency

1 reference

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30 September 2018

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data

1 reference

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30 September 2018

Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity

1 reference

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30 September 2018

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

1 reference

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30 September 2018

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles

1 reference

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30 September 2018

The long quest for neonatal screening for severe combined immunodeficiency

1 reference

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30 September 2018

An integrative variant analysis suite for whole exome next-generation sequencing data

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30 September 2018

The case for newborn screening for severe combined immunodeficiency and related disorders

1 reference

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30 September 2018

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

1 reference

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30 September 2018

In vitro-selected drug-resistant varicella-zoster virus mutants in the thymidine kinase and DNA polymerase genes yield novel phenotype-genotype associations and highlight differences between antiherpesvirus drugs

1 reference

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30 September 2018

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

1 reference

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30 September 2018

Disseminated varicella infection caused by varicella vaccine strain in a child with low invariant natural killer T cells and diminished CD1d expression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238873

30 September 2018

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

1 reference

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30 September 2018

Whole-genome sequencing for optimized patient management

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30 September 2018

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

1 reference

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30 September 2018

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30 September 2018

Varicella-zoster virus infections in immunocompromised patients - a single centre 6-years analysis

1 reference

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30 September 2018

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30 September 2018

Detection of clinically relevant exonic copy-number changes by array CGH.

1 reference

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30 September 2018

Vaccine-acquired rotavirus in infants with severe combined immunodeficiency

1 reference

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30 September 2018

Combined immunodeficiency associated with DOCK8 mutations

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30 September 2018

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1 reference

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30 September 2018

Development of a routine newborn screening protocol for severe combined immunodeficiency

1 reference

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30 September 2018

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1 reference

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30 September 2018

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion

1 reference

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30 September 2018

RAPID: Resource of Asian Primary Immunodeficiency Diseases

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30 September 2018

Foscarnet salvage therapy for acyclovir-resistant varicella zoster: report of a novel thymidine kinase mutation and review of the literature

1 reference

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30 September 2018

Severe varicella caused by varicella-vaccine strain in a child with significant T-cell dysfunction

1 reference

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Interleukin-7 receptor expression: intelligent design

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Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

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30 September 2018

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

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30 September 2018

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

1 reference

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30 September 2018

Disseminated varicella infection due to the vaccine strain of varicella-zoster virus, in a patient with a novel deficiency in natural killer T cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4238873

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Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings

1 reference

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Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.

1 reference

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30 September 2018

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30 September 2018

A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency

1 reference

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30 September 2018

Disseminated infection with varicella-zoster virus vaccine strain presenting as hepatitis in a child with adenosine deaminase deficiency

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30 September 2018

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30 September 2018

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

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21 January 2018

IL-7 induces myelopoiesis and erythropoiesis

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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12 December 2020

based on heuristic

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

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12 December 2020

based on heuristic

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Primary immunodeficiencies

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https://pubmed.ncbi.nlm.nih.gov/25046553

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal varicella in a 5-year-old boy

1 reference

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12 December 2020

based on heuristic

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1 reference

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12 December 2020

based on heuristic

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Statewide newborn screening for severe T-cell lymphopenia

1 reference

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12 December 2020

based on heuristic

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12 December 2020

based on heuristic

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