Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations

scientific article published on October 2012

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3109/08830185.2012.697230
P698PubMed publication ID23083345
P5875ResearchGate publication ID232527706

P50authorClaudio PignataQ30512461
Loredana PalamaroQ42780158
Giuliana GiardinoQ55807379
Emilia CirilloQ55807381
P2093author name stringDonatella Capalbo
Mariacarolina Salerno
Rosa Romano
Vera Gallo
Lucia De Martino
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Altered thymic T-cell selection due to a mutation of the ZAP-70 gene causes autoimmune arthritis in miceQ59069058
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Aire's partners in the molecular control of immunological toleranceQ24296286
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domainsQ24313206
The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expressionQ24316299
Chromosomal clustering of genes controlled by the aire transcription factorQ24527311
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy proteinQ24539020
Immunodeficiency and autoimmunity: lessons from systemic lupus erythematosusQ24632664
Transcriptional regulation by AIRE: molecular mechanisms of central toleranceQ24648384
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndromeQ24679039
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Projection of an immunological self shadow within the thymus by the aire proteinQ28207164
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High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISHQ28246891
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Several different cell surface molecules control negative selection of medullary thymocytesQ28591321
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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3Q29619324
Critical functions for c-Myb at three checkpoints during thymocyte developmentQ30433753
Lymph node-resident lymphatic endothelial cells mediate peripheral tolerance via Aire-independent direct antigen presentationQ30434547
Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokinesQ33348588
Positive selection of thymocytesQ33366862
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AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cellsQ41849042
T-lymphoid, megakaryocyte, and granulocyte development are sensitive to decreases in CBFbeta dosageQ42193621
The thymic medulla: a unique microenvironment for intercellular self-antigen transferQ42572856
Negative selection in the thymus includes semimature T cellsQ42947706
A role for Fas in negative selection of thymocytes in vivoQ42971592
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Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relativesQ43776911
Thymocyte apoptosis induced by T cell activation is mediated by glucocorticoids in vivoQ44092294
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).Q44540762
A role for the orphan steroid receptor Nur77 in apoptosis accompanying antigen-induced negative selectionQ44593628
APECED-causing mutations in AIRE reveal the functional domains of the proteinQ44770511
NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) diseaseQ45223536
Apoptosis as a mechanism of peripheral blood mononuclear cell death after measles and varicella-zoster virus infections in childrenQ45758466
Does T-cell tolerance require a dedicated antigen-presenting cell?Q46491587
Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targetingQ46690364
Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.Q46723121
Expression of FoxP3, a key molecule in CD4CD25 regulatory T cells, in adult T-cell leukaemia/lymphoma cellsQ47339163
The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factorQ47714540
Isolation and characterization of the mouse Aire geneQ47984990
Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1).Q47985178
AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticityQ48541886
Developmental control point in induction of thymic cortex regulated by a subpopulation of prothymocytes.Q51127244
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.Q51359287
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population.Q51770590
Promiscuous gene expression and the developmental dynamics of medullary thymic epithelial cells.Q51972426
Developmental kinetics, turnover, and stimulatory capacity of thymic epithelial cells.Q52010433
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.Q52565926
Features of medullary thymic epithelium implicate postnatal development in maintaining epithelial heterogeneity and tissue-restricted antigen expression.Q53624774
Shaping of the autoreactive T-cell repertoire by a splice variant of self protein expressed in thymic epithelial cells.Q54067406
Aire deficient mice do not develop the same profile of tissue-specific autoantibodies as APECED patients.Q54292599
Proinsulin expression by Hassall's corpuscles in the mouse thymus.Q54732145
Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self.Q55035366
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.Q55042744
Dead man walking: how thymocytes scan the medulla.Q55052077
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients.Q55057090
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.Q55068181
Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).Q55068234
IMMUNOLOGICAL FUNCTION OF THE THYMUSQ56623510
Cutaneous T-cell lymphoma: malignant proliferation of T-regulatory cellsQ56903036
Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional NovelAIREGene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy PatientsQ57715664
Polyglandular autoimmune syndrome type I among Iranian JewsQ33594705
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IQ33656182
CBP and p300: HATs for different occasionsQ33980693
Immunological tolerance and autoimmunityQ34001083
The role of the thymus in toleranceQ34103905
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasisQ34149957
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1Q34388164
Cooperative activation of transcription by autoimmune regulator AIRE and CBP.Q34427402
IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomenaQ34468346
Development and function of agonist-induced CD25+Foxp3+ regulatory T cells in the absence of interleukin 2 signalingQ34561791
The role of the transcription factor Foxp3 in the development of regulatory T cellsQ34569892
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymusQ34581770
Role of regulatory T cells and FOXP3 in human diseases.Q34657962
Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease predictionQ34671679
Foxp3+ CD25+ regulatory T cells specific for a neo-self-antigen develop at the double-positive thymic stageQ34694319
Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I.Q34977002
Negative selection--clearing out the bad apples from the T-cell repertoireQ35136005
Antibody deficiency and autoimmunity in 22q11.2 deletion syndromeQ35571176
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld diseaseQ35604700
Starting at the beginning: new perspectives on the biology of mucosal T cellsQ35698446
The coactivator LXXLL nuclear receptor recognition motif.Q35721024
Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletionQ35967082
Lymphotoxin alpha 1 beta 2: a critical mediator in V alpha 14i NKT cell differentiationQ35988359
CD4(+) CD25(+) regulatory T cell selectionQ36024776
A well adapted regulatory contrivance: regulatory T cell development and the forkhead family transcription factor Foxp3.Q36078042
Induction, exacerbation and inhibition of allergic and autoimmune diseases by infectionQ36113421
Proliferative arrest and rapid turnover of thymic epithelial cells expressing AireQ36229072
Activation events during thymic selectionQ36231057
Mature T cells of autoimmune lpr/lpr mice have a defect in antigen-stimulated suicideQ36297378
Role of regulatory T cells in human diseases.Q36308397
An essential role for gp39, the ligand for CD40, in thymic selection.Q36365446
High frequency of autoreactive myelin proteolipid protein-specific T cells in the periphery of naive mice: mechanisms of selection of the self-reactive repertoireQ36376026
Regulation of experimental autoimmune encephalomyelitis by natural killer (NK) cellsQ36380889
Establishment and functioning of intrathymic microenvironments.Q36382713
Promiscuous gene expression patterns in single medullary thymic epithelial cells argue for a stochastic mechanismQ36392973
AIRE functions as an E3 ubiquitin ligaseQ36399016
Number of T reg cells that differentiate does not increase upon encounter of agonist ligand on thymic epithelial cells.Q36399562
Maintenance of T cell specification and differentiation requires recurrent notch receptor-ligand interactionsQ36399587
Promiscuous gene expression in thymic epithelial cells is regulated at multiple levelsQ36402949
CD4+CD25+ regulatory T cells in health and disease.Q36478841
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturationQ36501062
It takes a PHD to read the histone codeQ36535423
Immunodeficiency and autoimmunity in 22q11.2 deletion syndromeQ36857515
B cells are required for Aire-deficient mice to develop multi-organ autoinflammation: A therapeutic approach for APECED patients.Q36861631
A decade of AIRE.Q36887125
Effector mechanisms of the autoimmune syndrome in the murine model of autoimmune polyglandular syndrome type 1.Q36916521
Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity.Q36948991
Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiatedQ36949091
Non-deletional mechanisms of peripheral and central tolerance: studies with transgenic mice with tissue-specific expression of a foreign MHC class I antigenQ37111712
The lymphotoxin pathway regulates Aire-independent expression of ectopic genes and chemokines in thymic stromal cellsQ37382924
AireQ37419376
X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunityQ37441631
The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1.Q37579113
The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal toleranceQ37695382
Expression and function of the autoimmune regulator (Aire) gene in non-thymic tissueQ37837965
Advances in autoimmune lymphoproliferative syndromesQ37859077
Severe combined immunodeficiences: new and old scenariosQ37976472
Identification of two novel mutations in the first Sicilian APECED patient with no R203X mutation in AIRE gene and review of Italian APECED genotypesQ37997286
Aire, master of many tradesQ39750387
Intercellular MHC transfer between thymic epithelial and dendritic cellsQ39992060
Functional interaction of AIRE with PIAS1 in transcriptional regulationQ40034953
DNA-PK contributes to the phosphorylation of AIRE: importance in transcriptional activityQ40053234
Expression of tumor-associated differentiation antigens, MUC1 glycoforms and CEA, in human thymic epithelial cells: implications for self-tolerance and tumor therapyQ40222466
Increased populations of regulatory T cells in peripheral blood of patients with hepatocellular carcinomaQ40436418
Thymic emigration: conveyor belts or lucky dips?Q40475281
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Q40479586
Foxp3 expressing CD4+CD25(high) regulatory T cells are overrepresented in human metastatic melanoma lymph nodes and inhibit the function of infiltrating T cellsQ40498116
Generation of macrophages from early T progenitors in vitroQ40807363
Defective function of Fas in patients with type 1 diabetes associated with other autoimmune diseasesQ40821131
Early T lymphocyte progenitorsQ41039646
Regulation of thymocyte development from immature progenitors.Q41049031
P433issue5
P304page(s)344-362
P577publication date2012-10-01
P1433published inInternational Reviews of ImmunologyQ6052764
P1476titleGenetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations
P478volume31

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cites work (P2860)
Q34380884APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors
Q38110764Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective
Q28533957Chloroquine treatment enhances regulatory T cells and reduces the severity of experimental autoimmune encephalomyelitis
Q34508306Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
Q34445745Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature
Q34362359Exacerbation of autoimmune neuro-inflammation in mice cured from blood-stage Plasmodium berghei infection
Q28075590Novel Findings into AIRE Genetics and Functioning: Clinical Implications
Q26829755Role of viruses and bacteria-virus interactions in autoimmunity
Q26745612Thymic and Postthymic Regulation of Naïve CD4(+) T-Cell Lineage Fates in Humans and Mice Models
Q28075911Unbalanced Immune System: Immunodeficiencies and Autoimmunity

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