(Q42602801)

English

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

scientific article published on 29 January 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

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

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

Jennifer M Puck

1

object named as

Jennifer M Puck

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

language of work or name

0 references

publication date

29 January 2012

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

The Journal of Allergy and Clinical Immunology

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

129

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

3

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

607-616

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

Neonatal screening for severe combined immunodeficiency

1 reference

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False-positive newborn screening result and future health care use in a state Medicaid cohort

1 reference

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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.

1 reference

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27 May 2018

Gene therapy for primary adaptive immune deficiencies

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Infections and immunodeficiency in Down syndrome

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Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

1 reference

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27 May 2018

Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey

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Newborn screening for T-cell deficiency

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

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Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management

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How I treat ADA deficiency

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Thymus transplantation in complete DiGeorge anomaly

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Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

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Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

1 reference

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27 May 2018

Population-based newborn screening for severe combined immunodeficiency: steps toward implementation

1 reference

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27 May 2018

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

1 reference

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27 May 2018

Development of population-based newborn screening for severe combined immunodeficiency

1 reference

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27 May 2018

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

1 reference

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Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders

1 reference

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Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation

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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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Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency.

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A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

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A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

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Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients

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T cell receptor excision circles as markers for recent thymic emigrants: basic aspects, technical approach, and guidelines for interpretation

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Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

1 reference

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A deletion in the gene encoding the CD45 antigen in a patient with SCID.

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T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency.

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Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency

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Defective expression of p56lck in an infant with severe combined immunodeficiency

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Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization

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Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

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The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

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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

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Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

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Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency

1 reference

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Severe combined immunodeficiency in an infant with multiple congenital abnormalities.

1 reference

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PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years

1 reference

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Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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based on heuristic

inferred from PubMed ID database lookup

Umbilical cord blood transplantation in severe T-cell immunodeficiency disorders: two-year experience

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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based on heuristic

inferred from PubMed ID database lookup

Immunological reconstitution of sex-linked lymphopenic immunological deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

Prospective study of early neonatal screening for phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

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

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Differential biological role of CD3 chains revealed by human immunodeficiencies

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Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

Statewide newborn screening for severe T-cell lymphopenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

Identification of an infant with severe combined immunodeficiency by newborn screening.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22285280

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inferred from PubMed ID database lookup

Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening

1 reference

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inferred from PubMed ID database lookup

Identifiers

10.1016/J.JACI.2012.01.032

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

3 November 2017

ResearchGate publication ID

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