Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells

Aberrant type 1 immunity drives susceptibility to mucosal fungal infections

(2021) Timothy J. Break et al.   SCIENCE

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

(2021) Tala Shahin et al.   Science Immunology

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

(2020) Hye Sun Kuehn et al.   BLOOD

Helios+ and Helios− Treg subpopulations are phenotypically and functionally distinct and express dissimilar TCR repertoires

(2019) Angela M. Thornton et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Measuring calprotectin in plasma and blood with a fully automated turbidimetric assay

(2019) Arne Åsberg et al.   SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION

Suppression of Aiolos and Ikaros expression by lenalidomide reduces human ILC3−ILC1/NK cell transdifferentiation

(2019) Luca Mazzurana et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

T follicular helper cells in human efferent lymph retain lymphoid characteristics

(2019) Laura A. Vella et al.   JOURNAL OF CLINICAL INVESTIGATION

The biology and functional importance of MAIT cells

(2019) Dale I. Godfrey et al.   NATURE IMMUNOLOGY

Helios enhances the preferential differentiation of human fetal CD4+ naïve T cells into regulatory T cells

(2019) Melissa S. F. Ng et al.   Science Immunology

Epigenetic and transcriptional analysis supports human regulatory T cell commitment at the CD4+CD8+ thymocyte stage

(2019) Reetta Vanhanen et al.   CELLULAR IMMUNOLOGY

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

(2019) Salla Keskitalo et al.   Frontiers in Immunology

MAIT cells and microbial immunity

(2018) Erin W Meermeier et al.   IMMUNOLOGY AND CELL BIOLOGY

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

(2018) David Boutboul et al.   JOURNAL OF CLINICAL INVESTIGATION

An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations

(2018) Xiaonan Liu et al.   Nature Communications

IKZF2 Drives Leukemia Stem Cell Self-Renewal and Inhibits Myeloid Differentiation

(2018) Sun-Mi Park et al.   Cell Stem Cell

The CD4−CD8− MAIT cell subpopulation is a functionally distinct subset developmentally related to the main CD8+ MAIT cell pool

(2018) Joana Dias et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The making of a lymphocyte: the choice among disparate cell fates and the IKAROS enigma

(2017) Katia Georgopoulos   GENES & DEVELOPMENT

MAIT cells reside in the female genital mucosa and are biased towards IL-17 and IL-22 production in response to bacterial stimulation

(2016) A Gibbs et al.   Mucosal Immunology

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

(2016) Hye Sun Kuehn et al.   NEW ENGLAND JOURNAL OF MEDICINE

S100A8/A9: From basic science to clinical application

(2016) Monika Pruenster et al.   PHARMACOLOGY & THERAPEUTICS

Instability of Helios-deficient Tregs is associated with conversion to a T-effector phenotype and enhanced antitumor immunity

(2016) Hidetoshi Nakagawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Emerging clinical phenotypes associated with anti-cytokine autoantibodies

(2015) Thierry Vincent et al.   AUTOIMMUNITY REVIEWS

Helios Controls a Limited Subset of Regulatory T Cell Functions

(2015) Mathew Sebastian et al.   JOURNAL OF IMMUNOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

C-Terminal Cleavage of Human Foxp3 at a Proprotein Convertase Motif Abrogates its Suppressive Function

(2015) R. Elhage et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Stable inhibitory activity of regulatory T cells requires the transcription factor Helios

(2015) H.-J. Kim et al.   SCIENCE

Innate mucosal-associated invariant T (MAIT) cells are activated in inflammatory bowel diseases

(2014) N.-E. Serriari et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

CD8+MAIT cells infiltrate into the CNS and alterations in their blood frequencies correlate with IL-18 serum levels in multiple sclerosis

(2014) Anne Willing et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Molecular and Transcriptional Basis of CD4+ T Cell Dysfunction during Chronic Infection

(2014) Alison Crawford et al.   IMMUNITY

Mi-2/NuRD chromatin remodeling complexes regulate B and T-lymphocyte development and function

(2014) Carissa Dege et al.   IMMUNOLOGICAL REVIEWS

Ikaros fingers on lymphocyte differentiation

(2014) Toshimi Yoshida et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

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

Adult T-cell leukemia cells are characterized by abnormalities ofHeliosexpression that promote T cell growth

(2013) Satomi Asanuma et al.   CANCER SCIENCE

Phenotype and regulation of immunosuppressive Vδ2-expressing γδ T cells

(2013) Christian Peters et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Helios+ and Helios- Cells Coexist within the Natural FOXP3+ T Regulatory Cell Subset in Humans

(2013) M. E. Himmel et al.   JOURNAL OF IMMUNOLOGY

The CRAPome: a contaminant repository for affinity purification–mass spectrometry data

(2013) Dattatreya Mellacheruvu et al.   NATURE METHODS

Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice

(2012) J. Kärner et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Network Analysis Reveals Centrally Connected Genes and Pathways Involved in CD8+ T Cell Exhaustion versus Memory

(2012) Travis A. Doering et al.   IMMUNITY

Helios Induces Epigenetic Silencing of Il2 Gene Expression in Regulatory T Cells

(2012) I. Baine et al.   JOURNAL OF IMMUNOLOGY

IL-2 Expression in Activated Human Memory FOXP3+ Cells Critically Depends on the Cellular Levels of FOXP3 as Well as of Four Transcription Factors of  T Cell Activation

(2012) Hanna Bendfeldt et al.   Frontiers in Immunology

Chipster: user-friendly analysis software for microarray and other high-throughput data

(2011) M Aleksi Kallio et al.   BMC GENOMICS

Helios Is Associated with CD4 T Cells Differentiating to T Helper 2 and Follicular Helper T Cells In Vivo Independently of Foxp3 Expression

(2011) Karine Serre et al.   PLoS One

Helios Expression Is a Marker of T Cell Activation and Proliferation

(2011) Tatiana Akimova et al.   PLoS One

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

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

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

The myeloid-related proteins 8 and 14 complex, a novel ligand of toll-like receptor 4, and interleukin-1β form a positive feedback mechanism in systemic-onset juvenile idiopathic arthritis

(2009) Michael Frosch et al.   ARTHRITIS AND RHEUMATISM

ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks

(2009) Gabriela Bindea et al.   BIOINFORMATICS

Quantitative DNA Methylation Analysis of FOXP3 as a New Method for Counting Regulatory T Cells in Peripheral Blood and Solid Tissue

(2009) G. Wieczorek et al.   CANCER RESEARCH

Helios Deficiency Has Minimal Impact on T Cell Development and Function

(2009) Q. Cai et al.   JOURNAL OF IMMUNOLOGY

T-cell-expressed proprotein convertase furin is essential for maintenance of peripheral immune tolerance

(2008) Marko Pesu et al.   NATURE