(Q37678465)

English

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience

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scholarly article

1 reference

Europe PubMed Central

21 August 2017

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience (English)

1 reference

Europe PubMed Central

21 August 2017

0 references

severe combined immunodeficiency

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

8

1 reference

Europe PubMed Central

21 August 2017

William T. Shearer

object named as

William T Shearer

1

0 references

Jennifer M Puck

5

object named as

Jennifer M Puck

1 reference

Europe PubMed Central

21 August 2017

14

object named as

Morton J Cowan

1 reference

Europe PubMed Central

21 August 2017

Rebecca H. Buckley

13

object named as

Rebecca H Buckley

1 reference

Europe PubMed Central

21 August 2017

Luigi D Notarangelo

3

object named as

Luigi D Notarangelo

1 reference

Europe PubMed Central

21 August 2017

Christopher C Dvorak

4

object named as

Christopher C Dvorak

1 reference

Europe PubMed Central

21 August 2017

6

object named as

Brent R Logan

1 reference

Europe PubMed Central

21 August 2017

Richard B. Reilly

9

object named as

Richard J O'Reilly

1 reference

Europe PubMed Central

21 August 2017

Thomas A Fleisher

10

object named as

Thomas A Fleisher

1 reference

Europe PubMed Central

21 August 2017

author name string

Elizabeth Dunn

2

1 reference

Europe PubMed Central

21 August 2017

Linda M Griffith

7

1 reference

Europe PubMed Central

21 August 2017

Sung-Yun Pai

11

1 reference

Europe PubMed Central

21 August 2017

Caridad A Martinez

12

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Europe PubMed Central

21 August 2017

language of work or name

0 references

publication date

28 November 2013

1 reference

Europe PubMed Central

21 August 2017

number of pages

7

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The Journal of Allergy and Clinical Immunology

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Europe PubMed Central

21 August 2017

133

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Europe PubMed Central

21 August 2017

4

1 reference

Europe PubMed Central

21 August 2017

1092-1098

1 reference

Europe PubMed Central

21 August 2017

Primary Immune Deficiency Treatment Consortium (PIDTC) report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Implementing genomic medicine in the clinic: the future is here

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Ten years of gene therapy for primary immune deficiencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

How I treat ADA deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Diagnosis of HIV-1 infection in children younger than 18 months in the United States

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Stem cell transplantation in primary immunodeficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

23 August 2017

The use of HLA-non-identical T-cell-depleted marrow transplants for correction of 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=3972266

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

28 September 2017

RAG mutations in human B cell-negative SCID.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

28 September 2017

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

25 June 2018

Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T-cell-depleted haplocompatible bone marrow transplantation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

25 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

25 June 2018

Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

25 June 2018

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

1 September 2018

Megadose CD34(+) cell grafts improve recovery of T cell engraftment but not B cell immunity in patients with severe combined immunodeficiency disease undergoing haplocompatible nonmyeloablative transplantation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

1 September 2018

Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

1 September 2018

Bone marrow transplantation 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=3972266

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

1 September 2018

Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

1 September 2018

T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972266

1 September 2018

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290292

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

T cell repertoire development in humans with SCID after nonablative allogeneic marrow transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290292

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290292

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24290292

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JACI.2013.09.044

1 reference

Europe PubMed Central

21 August 2017

1 reference

Europe PubMed Central

21 August 2017

1 reference

Europe PubMed Central

21 August 2017

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