(Q37973770)

30 June 2019

title

Monogenic autoimmunity (English)

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30 June 2019

author name string

Mickie H Cheng

series ordinal

1

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30 June 2019

Mark S Anderson

series ordinal

2

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30 June 2019

publication date

6 January 2012

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30 June 2019

Annual Review of Immunology

published in

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30 June 2019

volume

30

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30 June 2019

page(s)

393-427

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30 June 2019

Interactions among the transcription factors Runx1, RORgammat and Foxp3 regulate the differentiation of interleukin 17-producing T cells

cites work

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12 December 2020

Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells.

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12 December 2020

Structure of a Domain-Swapped FOXP3 Dimer on DNA and Its Function in Regulatory T Cells

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12 December 2020

Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations

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12 December 2020

Survey of Turkish systemic lupus erythematosus patients for a particular mutation of C1Q deficiency

1 reference

12 December 2020

Tartrate-resistant acid phosphatase (TRAP) and the osteoclast/immune cell dichotomy

1 reference

12 December 2020

Trex1 prevents cell-intrinsic initiation of autoimmunity

1 reference

12 December 2020

Systemic lupus erythematosus, complement deficiency, and apoptosis

1 reference

12 December 2020

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

1 reference

12 December 2020

Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen

1 reference

12 December 2020

Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.

1 reference

12 December 2020

ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

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12 December 2020

Induction of FoxP3 and acquisition of T regulatory activity by stimulated human CD4+CD25– T cells

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12 December 2020

Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1

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12 December 2020

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.

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12 December 2020

Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

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12 December 2020

Aire's partners in the molecular control of immunological tolerance

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12 December 2020

Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity

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12 December 2020

Armed response: how dying cells influence T-cell functions

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12 December 2020

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

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12 December 2020

Immunodeficiency mutation databases (IDbases).

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12 December 2020

Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

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12 December 2020

A protective role for innate immunity in systemic lupus erythematosus

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12 December 2020

Transient regulatory T-cells: a state attained by all activated human T-cells.

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12 December 2020

Diagnostic and prognostic significance of anti-C1q antibodies in systemic lupus erythematosus.

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12 December 2020

Peripheral antigen display by lymph node stroma promotes T cell tolerance to intestinal self

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12 December 2020

Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

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12 December 2020

Checkpoints in lymphocyte development and autoimmune disease

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12 December 2020

Expression of Helios, an Ikaros transcription factor family member, differentiates thymic-derived from peripherally induced Foxp3+ T regulatory cells

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12 December 2020

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance

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12 December 2020

A central role for central tolerance

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12 December 2020

RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

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12 December 2020

Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity

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12 December 2020

Chronic lymphadenopathy simulating malignant lymphoma

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12 December 2020

Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

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12 December 2020

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

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12 December 2020

Type I interferons in host defense

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12 December 2020

Positional cloning of the APECED gene

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12 December 2020

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

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12 December 2020

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

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12 December 2020

Peripheral-antigen-expressing cells in thymic medulla: factors in self-tolerance and autoimmunity

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12 December 2020

Foxp3 programs the development and function of CD4+CD25+ regulatory T cells

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12 December 2020

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

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12 December 2020

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy

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12 December 2020

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

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12 December 2020

FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

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12 December 2020

C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes

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12 December 2020

Danger-free autoimmune disease in Aire-deficient mice

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12 December 2020

Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1

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12 December 2020

Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease

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12 December 2020

The role of complement in the development of systemic lupus erythematosus

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12 December 2020

Role of conserved non-coding DNA elements in the Foxp3 gene in regulatory T-cell fate

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12 December 2020

Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice

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12 December 2020

CD127 expression inversely correlates with FoxP3 and suppressive function of human CD4+ T reg cells

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12 December 2020

Aicardi-Goutières syndrome (AGS).

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12 December 2020

Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis

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12 December 2020

Isoform-specific inhibition of ROR alpha-mediated transcriptional activation by human FOXP3

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12 December 2020

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

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12 December 2020

Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis

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12 December 2020

The inhibitory cytokine IL-35 contributes to regulatory T-cell function

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12 December 2020

Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand

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12 December 2020

How virus induces a rapid or slow onset insulin-dependent diabetes mellitus in a transgenic model

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12 December 2020

Subcellular location and expression pattern of autoimmune regulator (Aire), the mouse orthologue for human gene defective in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)

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12 December 2020

Osteopontin: a bridge between bone and the immune system

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12 December 2020

Natural versus adaptive regulatory T cells

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12 December 2020

C1q inhibits immune complex-induced interferon-alpha production in plasmacytoid dendritic cells: a novel link between C1q deficiency and systemic lupus erythematosus pathogenesis

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12 December 2020

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

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12 December 2020

A case of selective Clq deficiency

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12 December 2020

X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea

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12 December 2020

AIRE activated tissue specific genes have histone modifications associated with inactive chromatin

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12 December 2020

Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies

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12 December 2020

Recent insights into the genetic basis of systemic lupus erythematosus

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12 December 2020

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

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12 December 2020

Ulcerative colitis-like disease in mice with a disrupted interleukin-2 gene

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12 December 2020

Modifier loci condition autoimmunity provoked by Aire deficiency

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12 December 2020

Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.

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12 December 2020

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

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12 December 2020

Regulatory T cells prevent catastrophic autoimmunity throughout the lifespan of mice

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12 December 2020

Aire regulates negative selection of organ-specific T cells

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12 December 2020

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

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12 December 2020

A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease

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12 December 2020

Deletional tolerance mediated by extrathymic Aire-expressing cells

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12 December 2020

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

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12 December 2020

A hierarchical role for classical pathway complement proteins in the clearance of apoptotic cells in vivo

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12 December 2020

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

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12 December 2020

Opsonization of apoptotic cells by autologous iC3b facilitates clearance by immature dendritic cells, down-regulates DR and CD86, and up-regulates CC chemokine receptor 7.

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12 December 2020

Human CD4+ CD25+ Foxp3+ regulatory T cells do not constitutively express IL-35.

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12 December 2020

Population genetics and functions of the autoimmune regulator (AIRE).

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12 December 2020

Dendritic cell-derived interferon-gamma-induced protein mediates tumor necrosis factor-alpha stimulation of human lung fibroblasts

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12 December 2020

APS-I/APECED: the clinical disease and therapy

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12 December 2020

Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation.

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12 December 2020

Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity.

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12 December 2020

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

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12 December 2020

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

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12 December 2020

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

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12 December 2020

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

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12 December 2020

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development

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12 December 2020

Cutting edge: Human regulatory T cells require IL-35 to mediate suppression and infectious tolerance

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12 December 2020

Infectious tolerance: human CD25(+) regulatory T cells convey suppressor activity to conventional CD4(+) T helper cells

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12 December 2020

Multistep pathogenesis of autoimmune disease.

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12 December 2020

CTLA-4 control over Foxp3+ regulatory T cell function

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12 December 2020

A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy

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12 December 2020

T-cell tolerance toward a transgenic beta-cell antigen and transcription of endogenous pancreatic genes in thymus

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12 December 2020

Expression profiling of autoimmune regulator AIRE mRNA in a comprehensive set of human normal and neoplastic tissues

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12 December 2020

Common silent mutations in all types of hereditary complement C1q deficiencies

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12 December 2020

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.

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12 December 2020

A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1.

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12 December 2020

Complement. First of two parts

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12 December 2020

A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome

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12 December 2020

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

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12 December 2020

An essential role for Scurfin in CD4+CD25+ T regulatory cells

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12 December 2020

Cutting edge: Lymphoproliferation caused by Fas deficiency is dependent on the transcription factor eomesodermin.

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12 December 2020

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms

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12 December 2020

Analysis of adhesion molecules, target cells, and role of IL-2 in human FOXP3+ regulatory T cell suppressor function

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12 December 2020

Functional delineation and differentiation dynamics of human CD4+ T cells expressing the FoxP3 transcription factor

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12 December 2020

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.

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12 December 2020

Phenotypical and functional specialization of FOXP3+ regulatory T cells

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12 December 2020

Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

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12 December 2020

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis

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12 December 2020

Familial systemic lupus erythematosus and congenital infection-like syndrome

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12 December 2020

Instability of the transcription factor Foxp3 leads to the generation of pathogenic memory T cells in vivo

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12 December 2020

Lymph node fibroblastic reticular cells directly present peripheral tissue antigen under steady-state and inflammatory conditions

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12 December 2020

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

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12 December 2020

Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients

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12 December 2020

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

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12 December 2020

Autoimmune diabetes as a consequence of locally produced interleukin-2

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12 December 2020

C1q deficiency and autoimmunity: the effects of genetic background on disease expression.

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12 December 2020

Transcriptional partners in regulatory T cells: Foxp3, Runx and NFAT

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12 December 2020

Autoimmune lymphoproliferative syndrome

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12 December 2020

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

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12 December 2020

Interleukin-2 receptor α chain regulates the size and content of the peripheral lymphoid compartment

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12 December 2020

AIRE in the thymus and beyond

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12 December 2020

The cellular mechanism of Aire control of T cell tolerance.

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12 December 2020

Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self.

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12 December 2020

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency

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12 December 2020

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

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12 December 2020

X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

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12 December 2020

Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I.

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12 December 2020

Global relevance of Aire binding to hypomethylated lysine-4 of histone-3.

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12 December 2020

Altered structure of autoantigens during apoptosis

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12 December 2020

Control of regulatory T cell development by the transcription factor Foxp3

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12 December 2020

Type I interferon in systemic lupus erythematosus and other autoimmune diseases

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12 December 2020

A function for interleukin 2 in Foxp3-expressing regulatory T cells

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12 December 2020

Control of central and peripheral tolerance by Aire

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12 December 2020

C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited

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12 December 2020

Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

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12 December 2020

Development and function of agonist-induced CD25+Foxp3+ regulatory T cells in the absence of interleukin 2 signaling

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12 December 2020

Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity

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12 December 2020

Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I

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12 December 2020

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

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12 December 2020

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12 December 2020

AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype

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12 December 2020

Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells.

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12 December 2020

Unraveling the genetics of autoimmunity

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12 December 2020

Clues to immune tolerance: the monogenic autoimmune syndromes

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12 December 2020

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

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12 December 2020

PCR-RFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus

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12 December 2020

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

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12 December 2020

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

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12 December 2020

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

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12 December 2020

Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

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12 December 2020

Chromosomal clustering of genes controlled by the aire transcription factor

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12 December 2020

Human CD4(+)CD25(+) regulatory, contact-dependent T cells induce interleukin 10-producing, contact-independent type 1-like regulatory T cells [corrected].

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12 December 2020

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease

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12 December 2020

Foxp3 occupancy and regulation of key target genes during T-cell stimulation

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12 December 2020

Spontaneous autoimmunity prevented by thymic expression of a single self-antigen

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12 December 2020

Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4

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12 December 2020

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance

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12 December 2020

Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor beta

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12 December 2020

The globular heads of C1q specifically recognize surface blebs of apoptotic vascular endothelial cells

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12 December 2020

The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes.

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12 December 2020

Projection of an immunological self shadow within the thymus by the aire protein

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12 December 2020

Plasticity of human regulatory T cells in healthy subjects and patients with type 1 diabetes.

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12 December 2020

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

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12 December 2020

FOXP3+ regulatory T cells in the human immune system

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12 December 2020

Foxp3 interacts with nuclear factor of activated T cells and NF-kappa B to repress cytokine gene expression and effector functions of T helper cells

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12 December 2020

Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.

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12 December 2020

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

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12 December 2020

The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis

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12 December 2020

Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels

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12 December 2020

Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus.

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12 December 2020

An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus

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12 December 2020

Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q

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12 December 2020

A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.

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12 December 2020

Expression of interleukin (IL)-2 and IL-7 receptors discriminates between human regulatory and activated T cells

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12 December 2020

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease

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12 December 2020

JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome

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12 December 2020

Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells

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12 December 2020

Gene dosage--limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity.

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12 December 2020

Chronic idiopathic hypoparathyroidism with superimposed Addison's disease in a child

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12 December 2020

Complement-dependent clearance of apoptotic cells by human macrophages

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12 December 2020

Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1.

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12 December 2020

Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations

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12 December 2020

Elimination of antigen-presenting cells and autoreactive T cells by Fas contributes to prevention of autoimmunity

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12 December 2020

Loss of Aire-dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunity

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12 December 2020

Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer

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12 December 2020

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

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12 December 2020

Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect

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12 December 2020

CD4+CD25+Foxp3+ regulatory T cells induce cytokine deprivation-mediated apoptosis of effector CD4+ T cells

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12 December 2020

T cell-specific ablation of Fas leads to Fas ligand-mediated lymphocyte depletion and inflammatory pulmonary fibrosis

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12 December 2020

Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells

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12 December 2020

Lymph node-resident lymphatic endothelial cells mediate peripheral tolerance via Aire-independent direct antigen presentation

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12 December 2020

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

1 reference

12 December 2020

FOXP3 controls regulatory T cell function through cooperation with NFAT

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12 December 2020

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

1 reference

12 December 2020

Identification of T helper type 1-like, Foxp3+ regulatory T cells in human autoimmune disease

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12 December 2020

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

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12 December 2020

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

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12 December 2020

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

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12 December 2020

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

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12 December 2020

Lpr and gld: single gene models of systemic autoimmunity and lymphoproliferative disease

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12 December 2020

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein

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12 December 2020

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

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12 December 2020

Increased Positive Selection of B1 Cells and Reduced B Cell Tolerance to Intracellular Antigens in c1q-Deficient Mice

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12 December 2020

Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus

1 reference

12 December 2020

Natural and adaptive foxp3+ regulatory T cells: more of the same or a division of labor?

1 reference

12 December 2020

Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo

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12 December 2020

FOXP3: of mice and men.

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12 December 2020

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

1 reference

12 December 2020

C1q, autoimmunity and apoptosis

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12 December 2020

Polyglandular autoimmune syndrome type I among Iranian Jews

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12 December 2020

Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

1 reference

12 December 2020

The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression

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12 December 2020

Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression

1 reference

12 December 2020

A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis.

1 reference

12 December 2020

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

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12 December 2020

Genetic disorders of programmed cell death in the immune system

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12 December 2020

A new case of IPEX receiving bone marrow transplantation

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12 December 2020

Ribonuclease H: the enzymes in eukaryotes

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12 December 2020

Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome

1 reference

12 December 2020

The Foxp3+ regulatory T cell: a jack of all trades, master of regulation

1 reference

12 December 2020

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus

1 reference

12 December 2020

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

1 reference

12 December 2020

Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations

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12 December 2020

TRAPing a new gene for autoimmunity

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12 December 2020

Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance.

1 reference

12 December 2020

X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea

1 reference

12 December 2020

The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression

1 reference

12 December 2020

10.1146/ANNUREV-IMMUNOL-020711-074953

Identifiers

DOI

1 reference

30 June 2019

PMC publication ID

6249029

1 reference

30 June 2019

PubMed publication ID

22224765

1 reference

30 June 2019