(Q35806314)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Gillian I. Rice

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Manish J. Butte

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Despina Moshous

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Sébastien Viel

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Christophe Caux

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Elizabeth Helen Kemp

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Yanick J. Crow

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Christine Ménétrier-Caux

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jean-Pierre de Villartay

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Thierry Walzer

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Alexandre Belot

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

9

Luigi D Notarangelo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

28

Mirjam van der Burg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

6

Capucine Picard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Estelle Verronese

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Fanny Fouyssac

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Yves Bertrand

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Marie Chansel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jolan E Walter

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Kari Christine Nadeau

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Krisztian Csomos

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

David J Chen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Karin Chen

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Ana Delgado

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Chantal Rigal

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Christine Bardin

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Catharina Schuetz

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Héloïse Reumaux

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

François Plenat

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Alice Phan

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Brigitte Balme

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jacques Bienvenu

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Pierre Cochat

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Isabelle Rouvet

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Christophe Malcus

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jean-Francois Méritet

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Annick Lim

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Nicole Fabien

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Marie-Thérèse Zabot

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

2 April 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Allergy and Clinical Immunology

4 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

1578-88.e5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

4 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4487867/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Interferon signature in the blood in inflammatory common variable immune deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

CVID-associated TACI mutations affect autoreactive B cell selection and activation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Lymphopenia combined with low TCR diversity (divpenia) predicts poor overall survival in metastatic breast cancer patients.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Aire and T cell development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

IL-17 and Th17 cells in tuberculosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Myeloid cells, BAFF, and IFN-gamma establish an inflammatory loop that exacerbates autoimmunity in Lyn-deficient mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Aire's partners in the molecular control of immunological tolerance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Thymus microenvironment in human primary immunodeficiency diseases.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

V(D)J recombination deficiencies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Omenn syndrome: inflammation in leaky severe combined immunodeficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

IL-23/IL-17 immunity as a hallmark of Crohn's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Human primary immunodeficiency diseases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

AIRE deficiency in thymus of 2 patients with Omenn syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

DNA-dependent protein kinase (DNA-PK) phosphorylates nuclear DNA helicase II/RNA helicase A and hnRNP proteins in an RNA-dependent manner

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Growth retardation and leaky SCID phenotype of Ku70-deficient mice.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Quantitative titration of nucleic acids by enzymatic amplification reactions run to saturation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Convenient assay for interferons

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Growth of epithelial cells in the thymic medulla is under the control of mature T cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

PRKDC mutations in a SCID patient with profound neurological abnormalities

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Increased IL-17A expression in granulomas and in circulating memory T cells in sarcoidosis.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Omenn syndrome is associated with mutations in DNA ligase IV.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

An immunodeficiency disease with RAG mutations and granulomas

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

BAFF augments certain Th1-associated inflammatory responses.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Omenn syndrome due to ARTEMIS mutations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Prevalence and pattern of antinuclear autoantibodies in 347 patients with non‐Hodgkin's lymphoma

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4487867

Primary humoral immunodeficiency (late-onset common variable immunodeficiency) with antinuclear antibodies and selective immunoglobulin deficiency

25 September 2018

1 reference

12 December 2020

Calcium-sensing receptor autoantibodies are relevant markers of acquired hypoparathyroidism

1 reference

12 December 2020

Interleukin-17 and Th17 cells: from adult to juvenile arthritis--now it is serious!

1 reference

12 December 2020

Autoantigen-Specific Interactions with CD4+ Thymocytes Control Mature Medullary Thymic Epithelial Cell Cellularity

1 reference

12 December 2020

Combination of MHC-peptide multimer-based T cell sorting with the Immunoscope permits sensitive ex vivo quantitation and follow-up of human CD8+ T cell immune responses

1 reference

12 December 2020

56 A convenient and rapid cytopathic effect inhibition assay for interferon

1 reference

12 December 2020

T helper type 2-like cells and therapeutic effects of interferon-gamma in combined immunodeficiency with hypereosinophilia (Omenn's syndrome)

1 reference

12 December 2020

10.1016/J.JACI.2015.01.040

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25842288%20AND%20SRC:MED&resulttype=core&format=json