(Q38175191)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Modern management of primary T-cell immunodeficiencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author

Jana Pachlopnik Schmid

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Tayfun Güngör

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Reinhard Seger

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

publication date

3 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

Pediatric Allergy & Immunology

4 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

300-313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383740%20AND%20SRC:MED&resulttype=core&format=json

A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside

4 March 2020

cites work

1 reference

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

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1 reference

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

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1 reference

A variant of SCID with specific immune responses and predominance of gamma delta T cells

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More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

21 January 2018

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DNA-PKcs deficiency in human: long predicted, finally found.

21 January 2018

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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.

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

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New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency

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1 reference

Cytokines and immunodeficiency diseases: critical roles of the gamma(c)-dependent cytokines interleukins 2, 4, 7, 9, 15, and 21, and their signaling pathways

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1 reference

A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID

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1 reference

Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients

21 January 2018

1 reference

Immunological aspects of 22q11.2 deletion syndrome

21 January 2018

1 reference

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

21 January 2018

1 reference

ZAP70: a master regulator of adaptive immunity

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Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbs

21 January 2018

1 reference

Omenn syndrome does not live by V(D)J recombination alone.

21 January 2018

1 reference

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

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1 reference

MHC class I–deficient natural killer cells acquire a licensed phenotype after transfer into an MHC class I–sufficient environment

21 January 2018

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Modern management of primary B-cell immunodeficiencies

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1 reference

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

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1 reference

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

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1 reference

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

21 January 2018

1 reference

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

21 January 2018

1 reference

The phenotype of human STK4 deficiency

21 January 2018

1 reference

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

21 January 2018

1 reference

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1 reference

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1 reference

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1 reference

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome

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Inherited defects in lymphocyte cytotoxic activity

21 January 2018

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1 reference

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation

21 January 2018

1 reference

The mechanism of tissue-restricted antigen gene expression by AIRE.

21 January 2018

1 reference

Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications

21 January 2018

1 reference

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

21 January 2018

1 reference

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1 reference

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1 reference

Thrombopoietin-receptor agonists for primary immune thrombocytopenia

21 January 2018

1 reference

Rapamycin selectively expands CD4+CD25+FoxP3+ regulatory T cells.

21 January 2018

1 reference

Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice

21 January 2018

1 reference

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Thymus transplantation

1 reference

Haematopoietic stem cell transplantation for SCID patients: where do we stand?

21 January 2018

1 reference

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

21 January 2018

1 reference

Thymocytes may persist and differentiate without any input from bone marrow progenitors

21 January 2018

1 reference

From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family

21 January 2018

1 reference

Bone marrow transplantation for severe combined immune deficiency

21 January 2018

1 reference

Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

21 January 2018

1 reference

Haemopoietic stem-cell transplantation with antibody-based minimal-intensity conditioning: a phase 1/2 study

21 January 2018

1 reference

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

21 January 2018

1 reference

Stem cell transplantation with reduced-intensity conditioning for hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

21 January 2018

1 reference

Gene therapy of primary T cell immunodeficiencies

21 January 2018

1 reference

Efficacy of gene therapy for X-linked severe combined immunodeficiency

21 January 2018

1 reference

Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency

21 January 2018

1 reference

The genomic risk of somatic gene therapy

21 January 2018

1 reference

Gene therapy for primary immunodeficiencies: Part 1.

21 January 2018

1 reference

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21 January 2018

1 reference

Stem-cell gene therapy for the Wiskott-Aldrich syndrome

21 January 2018

1 reference

Large-scale manufacture and characterization of a lentiviral vector produced for clinical ex vivo gene therapy application

21 January 2018

1 reference

Genetic engineering of human pluripotent cells using TALE nucleases

21 January 2018

1 reference

Neonatal screening for severe combined immunodeficiency

21 January 2018

1 reference

Severe combined immunodeficiency. A model disease for molecular immunology and therapy

21 January 2018

1 reference