Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

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

(2015) Yun Ling et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2015) Michelle L Robinette et al.   NATURE IMMUNOLOGY

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

(2014) Emmanuel Martin et al.   NATURE

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

(2014) Alexandra J. Corbett et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Functional T Cell Immunodeficiencies (with T Cells Present)

(2013) Luigi D. Notarangelo   Annual Review of Immunology

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

(2013) Bertrand Boisson et al.   IMMUNITY

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

(2013) Rangsima Reantragoon et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2013) Ildiko Van Rhijn et al.   NATURE IMMUNOLOGY

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

(2012) C. S. Ma et al.   BLOOD

A novel isoform of the orphan receptor RORγt suppresses IL-17 production in human T cells

(2012) T Rauen et al.   GENES AND IMMUNITY

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

(2012) Miyuki Tsumura et al.   HUMAN MUTATION

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

(2012) Marie-Olivia Chandesris et al.   MEDICINE

MR1 presents microbial vitamin B metabolites to MAIT cells

(2012) Lars Kjer-Nielsen et al.   NATURE

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

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

(2011) M. Ouederni et al.   BLOOD

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

(2011) Neil V. Morgan et al.   JOURNAL OF CLINICAL INVESTIGATION

The Th17 immune response is controlled by the Rel–RORγ–RORγT transcriptional axis

(2011) Qingguo Ruan et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Ultra-sensitive detection of rare T cell clones

(2011) Harlan Robins et al.   JOURNAL OF IMMUNOLOGICAL METHODS

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

(2011) A. V. Grant et al.   JOURNAL OF MEDICAL GENETICS

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

Deep Sequencing of the Human TCR  and TCR  Repertoires Suggests that TCR  Rearranges After    and    T Cell Commitment

(2011) A. M. Sherwood et al.   Science Translational Medicine

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Antimicrobial activity of mucosal-associated invariant T cells

(2010) Lionel Le Bourhis et al.   NATURE IMMUNOLOGY

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

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Antisense-mediated exon skipping to correct IL-12Rβ1 deficiency in T cells

(2009) Esther van de Vosse et al.   BLOOD

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

(2009) H. S. Robins et al.   BLOOD

Interleukin-1 and IL-23 Induce Innate IL-17 Production from γδ T Cells, Amplifying Th17 Responses and Autoimmunity

(2009) Caroline E. Sutton et al.   IMMUNITY

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

(2009) Rebekka Geiger et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2009) Heather R. Conti et al.   JOURNAL OF EXPERIMENTAL MEDICINE

T Helper 17 Lineage Differentiation Is Programmed by Orphan Nuclear Receptors RORα and RORγ

(2008) Xuexian O. Yang et al.   IMMUNITY

Foxp3 Inhibits RORγt-mediatedIL-17AmRNA Transcription through Direct Interaction with RORγt

(2008) Kenji Ichiyama et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) Hiroaki Takatori et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2008) M.-L. Michel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA