(Q36344921)

13 August 2017

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations (English)

1 reference

13 August 2017

32

1 reference

13 August 2017

33

1 reference

13 August 2017

47

1 reference

13 August 2017

Jean-Laurent Casanova

51

1 reference

13 August 2017

39

Capucine Picard

0 references

Jean-Pierre de Villartay

34

Jean-Pierre de Villartay

1 reference

Cecilia S. Lindestam Arlehamn

13 August 2017

48

Federica Sallusto

0 references

Cecilia S Lindestam Arlehamn

29

0 references

Egídio Torrado

Egidio Torrado

23

0 references

Cindy S Ma

Cindy S Ma

10

0 references

Bertrand Boisson

Bertrand Boisson

27

0 references

Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

46

0 references

Sylvain Latour

Sylvain Latour

37

0 references

Despina Moshous

Despina Moshous

35

0 references

Peter D Arkwright

Peter D Arkwright

38

0 references

Laurent Abel

Laurent Abel

43

0 references

Satoshi Okada

Satoshi Okada

1

0 references

Jacinta Bustamante

Jacinta Bustamante

49

0 references

Andrea M. Cooper

Andrea M Cooper

44

0 references

Fabienne Jabot-Hanin

Fabienne Jabot-Hanin

22

0 references

Janet G Markle

Janet G Markle

2

0 references

Mélanie Migaud

Mélanie Migaud

28

0 references

Caroline Deswarte

Caroline Deswarte

21

0 references

Claire Soudais

Claire Soudais

12

0 references

Olivier Lantz

Olivier Lantz

40

0 references

Daniela Latorre

Daniela Latorre

20

0 references

Alessandro Sette

30

Alessandro Sette

1 reference

13 August 2017

45

Luigi D Notarangelo

1 reference

13 August 2017

3

Elissa K Deenick

1 reference

13 August 2017

50

Stuart G Tangye

1 reference

13 August 2017

4

Federico Mele

1 reference

13 August 2017

19

Danielle T Avery

1 reference

13 August 2017

26

Yuval Itan

1 reference

13 August 2017

9

Rabih Halwani

1 reference

13 August 2017

Dina Averbuch

5

1 reference

13 August 2017

Macarena Lagos

6

1 reference

13 August 2017

Mohammed Alzahrani

7

1 reference

13 August 2017

Saleh Al-Muhsen

8

1 reference

13 August 2017

Natalie Wong

11

1 reference

13 August 2017

Lauren A Henderson

13

1 reference

13 August 2017

Hiyam Marzouqa

14

1 reference

13 August 2017

Jamal Shamma

15

1 reference

13 August 2017

Marcela Gonzalez

16

1 reference

13 August 2017

Rubén Martinez-Barricarte

17

1 reference

13 August 2017

Chizuru Okada

18

1 reference

13 August 2017

Jeffrey Fountain

24

1 reference

13 August 2017

Aziz Belkadi

25

1 reference

13 August 2017

Sylvain Breton

31

1 reference

13 August 2017

Sophie Hambleton

36

1 reference

13 August 2017

Dan Engelhard

41

1 reference

13 August 2017

Masao Kobayashi

42

1 reference

13 August 2017

language of work or name

English

0 references

publication date

9 July 2015

1 reference

13 August 2017

1 reference

13 August 2017

349

1 reference

13 August 2017

606-613

1 reference

13 August 2017

6248

1 reference

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Transcriptional programs define molecular characteristics of innate lymphoid cell classes and subsets

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

A general framework for estimating the relative pathogenicity of human genetic variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

A conserved human T cell population targets mycobacterial antigens presented by CD1b

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Functional T cell immunodeficiencies (with T cells present).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

The Th17 immune response is controlled by the Rel-RORγ-RORγ T transcriptional axis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Antimicrobial activity of mucosal-associated invariant T cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Lymphoid tissue inducer-like cells are an innate source of IL-17 and IL-22

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Critical role of ROR-γt in a new thymic pathway leading to IL-17-producing invariant NKT cell differentiation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

T helper 17 lineage differentiation is programmed by orphan nuclear receptors ROR alpha and ROR gamma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Surface phenotype and antigenic specificity of human interleukin 17-producing T helper memory cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

The orphan nuclear receptor RORgammat directs the differentiation program of proinflammatory IL-17+ T helper cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Thymic origin of intestinal alphabeta T cells revealed by fate mapping of RORgammat+ cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

An essential function for the nuclear receptor RORgamma(t) in the generation of fetal lymphoid tissue inducer cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

The role of the nuclear hormone receptor RORγt in the development of lymph nodes and Peyer's patches

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Familial CD8 deficiency due to a mutation in the CD8 alpha gene.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Requirement for RORgamma in thymocyte survival and lymphoid organ development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

RORgammaT, a thymus-specific isoform of the orphan nuclear receptor RORgamma / TOR, is up-regulated by signaling through the pre-T cell receptor and binds to the TEA promoter

30 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

30 September 2017

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

RORgamma t, a novel isoform of an orphan receptor, negatively regulates Fas ligand expression and IL-2 production in T cells

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Genomic structure and chromosomal mapping of the nuclear orphan receptor ROR gamma (RORC) gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Bacille Calmette-Guérin vaccination enhances human gamma delta T cell responsiveness to mycobacteria suggestive of a memory-like phenotype.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Interleukin-1 and IL-23 induce innate IL-17 production from gammadelta T cells, amplifying Th17 responses and autoimmunity.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Genetic evidence supporting selection of the Valpha14i NKT cell lineage from double-positive thymocyte precursors

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Regulation of the TCRalpha repertoire by the survival window of CD4(+)CD8(+) thymocytes.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4668938

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

22 September 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Foxp3 inhibits RORgammat-mediated IL-17A mRNA transcription through direct interaction with RORgammat

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Comprehensive assessment of T-cell receptor beta-chain diversity in alphabeta T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Deep sequencing of the human TCRγ and TCRβ repertoires suggests that TCRβ rearranges after αβ and γδ T cell commitment

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Ultra-sensitive detection of rare T cell clones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Stable growth transformation of human T lymphocytes by herpesvirus saimiri

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Cell-surface marking of CD(34+)-restricted phenotypes of human hematopoietic progenitor cells by retrovirus-mediated gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Antisense-mediated exon skipping to correct IL-12Rbeta1 deficiency in T cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Human naive and memory CD4+ T cell repertoires specific for naturally processed antigens analyzed using libraries of amplified T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

MR1 presents microbial vitamin B metabolites to MAIT cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

T-cell activation by transitory neo-antigens derived from distinct microbial pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Antigen-loaded MR1 tetramers define T cell receptor heterogeneity in mucosal-associated invariant T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

Flexible programs of chemokine receptor expression on human polarized T helper 1 and 2 lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.AAA4282

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.AAA4282

1 reference

13 August 2017

1 reference

13 August 2017

1 reference