Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

(2018) Charlotte Schwab et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

STAT1 and STAT3 mutations: important lessons for clinical immunologists

(2018) Peter Olbrich et al.   Expert Review of Clinical Immunology

Strong adhesion by regulatory T cells induces dendritic cell cytoskeletal polarization and contact-dependent lethargy

(2017) Jiahuan Chen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Discovery of stimulation-responsive immune enhancers with CRISPR activation

(2017) Dimitre R. Simeonov et al.   NATURE

Differential Insulitic Profiles Determine the Extent of β-Cell Destruction and the Age at Onset of Type 1 Diabetes

(2016) Pia Leete et al.   DIABETES

Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity

(2016) C. A. Dendrou et al.   Science Translational Medicine

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

(2016) T. F. M. Andlauer et al.   Science Advances

Natural Variation in Interleukin-2 Sensitivity Influences Regulatory T-Cell Frequency and Function in Individuals With Long-standing Type 1 Diabetes

(2015) Jennie H.M. Yang et al.   DIABETES

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

(2015) Louis-Marie Charbonnier et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Role ofPTPN22Risk Variant in the Development of Autoimmunity: Finding Common Ground between Mouse and Human

(2015) David J. Rawlings et al.   JOURNAL OF IMMUNOLOGY

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

(2015) B. Lo et al.   SCIENCE

Blood and Islet Phenotypes Indicate Immunological Heterogeneity in Type 1 Diabetes

(2014) Sefina Arif et al.   DIABETES

Autoreactive T cells specific for insulin B:11-23 recognize a low-affinity peptide register in human subjects with autoimmune diabetes

(2014) J. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

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Follicular bronchiolitis as phenotype associated with CD25 deficiency

(2013) L. Bezrodnik et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Multiple Autoimmune-Associated Variants Confer Decreased IL-2R Signaling in CD4+CD25hi T Cells of Type 1 Diabetic and Multiple Sclerosis Patients

(2013) Karen Cerosaletti et al.   PLoS One

Naturally occurring regulatory T cells: markers, mechanisms, and manipulation

(2012) Klaus G. Schmetterer et al.   FASEB JOURNAL

Type 1 Diabetes-Associated IL2RA Variation Lowers IL-2 Signaling and Contributes to Diminished CD4+CD25+ Regulatory T Cell Function

(2012) G. Garg et al.   JOURNAL OF IMMUNOLOGY

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

(2012) Eva d'Hennezel et al.   JOURNAL OF MEDICAL GENETICS

Altered B Cell Homeostasis Is Associated with Type I Diabetes and Carriers of the PTPN22 Allelic Variant

(2011) T. Habib et al.   JOURNAL OF IMMUNOLOGY

Both Polymorphic Variable Number of Tandem Repeats and Autoimmune Regulator Modulate Differential Expression of Insulin in Human Thymic Epithelial Cells

(2010) C. Q. Cai et al.   DIABETES

Rituximab, B-Lymphocyte Depletion, and Preservation of Beta-Cell Function

(2009) Mark D. Pescovitz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE