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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1611 - 1623.e3
Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial... 
Allergy and Immunology | Signal transducer and activator of transcription 1 | regulatory T cell | immune dysregulation–polyendocrinopathy–enteropathy–X-linked | chronic mucocutaneous candidiasis | forkhead box protein 3 | aneurysms | immune dysregulation-polyendocrinopathy-enteropathy-X-linked | IMMUNOLOGY | DEFICIENCY | DISEASES | ALLERGY | REGULATORY T-CELLS | IPEX | EXPRESSION | IMMUNODEFICIENCY | T-Lymphocytes, Regulatory - metabolism | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Transcriptional Activation | Interleukin-17 - immunology | Child, Preschool | Male | Intestinal Diseases - immunology | Lymphocyte Subsets - immunology | T-Lymphocytes, Regulatory - immunology | Lymphocyte Subsets - metabolism | STAT1 Transcription Factor - metabolism | Genes, Dominant | Th17 Cells - metabolism | Interleukins - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Phosphorylation - drug effects | Child | Intestinal Diseases - genetics | Immunophenotyping | DNA - metabolism | Forkhead Transcription Factors - genetics | STAT1 Transcription Factor - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Interferon-alpha - immunology | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Autoantibodies - immunology | Phenotype | Adolescent | Th17 Cells - immunology | Mutation | Cell Line, Transformed | Interferon-gamma - pharmacology | Autoimmunity | Medical colleges | Invisibility | Molecular genetics | Mycoses | Aneurysms | Genetic aspects | Children | Health aspects
Journal Article
Journal of Clinical Immunology, ISSN 0271-9142, 5/2008, Volume 28, Issue S1, pp. 11 - 19
Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. The concept of immune... 
Autoimmunity | Medical Microbiology | autoimmune regulator (AIRE) | primary immune deficiency disorders (PIDD) | polyendocrinopathy | Internal Medicine | immune dysregulation | immune tolerance | Biomedicine | Immunology | candidiasis and ectodermal dystrophy (APECED) | Infectious Diseases | enteropathy and X-linked (IPEX) | forkhead box P3 (FOXP3) | autoimmune polyendocrinopathy | Enteropathy and X-linked (IPEX) | Forkhead box P3 (FOXP3) | Immune dysregulation | Immune tolerance | Polyendocrinopathy | Autoimmune polyendocrinopathy | Autoimmune regulator (AIRE) | Candidiasis and ectodermal dystrophy (APECED) | X-LINKED SYNDROME | BONE-MARROW-TRANSPLANTATION | autoinimunity | LEUKOCYTE MYELOPEROXIDASE DEFICIENCY | IMMUNOLOGY | autoininume polyendocrinopathy | ADDISONS-DISEASE | CHRONIC MUCOCUTANEOUS CANDIDIASIS | AIRE GENE | ECTODERMAL DYSTROPHY | SYNDROME TYPE-I | REGULATORY T-CELLS | Candida albicans | Forkhead Transcription Factors - immunology | T-Lymphocytes, Regulatory - metabolism | Humans | Autoimmunity - genetics | Disease Susceptibility - immunology | Forkhead Transcription Factors - metabolism | T-Lymphocytes, Regulatory - cytology | Polyendocrinopathies, Autoimmune - complications | Polyendocrinopathies, Autoimmune - genetics | Transcription Factors - immunology | T-Lymphocytes, Regulatory - physiology | Polyendocrinopathies, Autoimmune - microbiology | Immunologic Deficiency Syndromes - complications | Candidiasis, Chronic Mucocutaneous - immunology | Self Tolerance | Transcription Factors - genetics | Disease Susceptibility - microbiology | Forkhead Transcription Factors - genetics | Immunologic Deficiency Syndromes - microbiology | Polymorphism, Genetic | Transcription Factors - metabolism | Animals | Autoantigens - immunology | Immunologic Deficiency Syndromes - physiopathology | Immunologic Deficiency Syndromes - genetics | Polyendocrinopathies, Autoimmune - physiopathology | Mice | Autoimmune diseases | Diagnosis
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2008, Volume 122, Issue 6, pp. 1105 - 1112.e1
Background Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an autoimmune genetic disorder caused by mutation of the forkhead... 
Allergy and Immunology | regulatory T cells | transcription factor | Immune dysregulation | autoimmunity | immunosuppressive treatment | polyendocrinopathy | enteropathy | X-linked syndrome | FOXP3 | bone marrow transplantation | Forkhead Transcription Factors - immunology | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Polyendocrinopathies, Autoimmune - therapy | Male | Intestinal Diseases - immunology | DNA Mutational Analysis - methods | Mutation - immunology | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Immunologic Deficiency Syndromes - therapy | Gene Expression Regulation - genetics | Gene Expression Regulation - immunology | Intestinal Diseases - genetics | Genotype | Protein Structure, Tertiary - genetics | Forkhead Transcription Factors - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Intestinal Diseases - therapy | Genetic Diseases, X-Linked - immunology | Intestinal Diseases - diagnosis | Phenotype | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, X-Linked - therapy | Genetic disorders | Stem cells | Bone marrow | Cystic fibrosis | Transplantation | Diabetes | Gene therapy | Antitank weapons | Proteins | Genotype & phenotype | Transplants & implants | Disease | Genes | Protein expression | Mutation | Patients | Age | Deoxyribonucleic acid--DNA
Journal Article
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, ISSN 0091-6749, 07/2019, Volume 144, Issue 1, pp. 317 - 317
Journal Article
Pediatrics, ISSN 0031-4005, 12/2014, Volume 134, Issue 6, pp. e1720 - e1726
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome is a monogenic disorder associated with autoimmune destruction of both endocrine and... 
APS-1 | Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome | Autoimmune enteropathy | Autoimmune polyendocrinopathy syndrome 1 | Hypocalcaemia | APECED | Enteroendocrine cells | CELLS | hypocalcaemia | autoimmune polyendocrinopathy syndrome 1 | autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome | PHENOTYPE | enteroendocrine cells | SYNDROME TYPE-I | TRYPTOPHAN-HYDROXYLASE AUTOANTIBODIES | POLYENDOCRINE SYNDROME TYPE-1 | CANDIDIASIS-ECTODERMAL-DYSTROPHY | APECED SYNDROME | MUTATION | DISEASE | PEDIATRICS | autoimmune enteropathy | MANIFESTATIONS | Azathioprine - therapeutic use | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Immunosuppressive Agents - therapeutic use | Seizures - drug therapy | Child, Preschool | Male | Seizures - diagnosis | Polyendocrinopathies, Autoimmune - pathology | Calcitriol - therapeutic use | Hypocalcemia - pathology | Hypocalcemia - drug therapy | Cyclosporine - therapeutic use | Biopsy | Adolescent | Hypocalcemia - genetics | Hypocalcemia - diagnosis | Polyendocrinopathies, Autoimmune - drug therapy | Polyendocrinopathies, Autoimmune - genetics | Drug Substitution | Drug Therapy, Combination | Longitudinal Studies | Calcium Citrate - therapeutic use | Intestinal Mucosa - pathology | Endocrine gland diseases | Hypocalcemia | Risk factors | Pediatrics | Disease management | Calcium | Autoimmune diseases | Blood
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 02/2010, Volume 207, Issue 2, pp. 291 - 297
Journal Article
Journal of Internal Medicine, ISSN 0954-6820, 05/2009, Volume 265, Issue 5, pp. 514 - 529
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2007, Volume 120, Issue 4, pp. 744 - 750
Journal Article
Immunologic Research, ISSN 0257-277X, 7/2007, Volume 38, Issue 1, pp. 112 - 121
FOXP3 is the key mediator of regulatory T-cell development in the thymus. Naturally occurring mutations of FOXP3 interfere with this process, resulting in the... 
Allergology | Forkhead/winged-helix protein (FOXP3) | Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) | Immunology | Medicine & Public Health | Stem cell transplantation | Scurfy mouse | Internal Medicine | Immunosuppressive therapy | Regulatory T cells | Medicine/Public Health, general | NEONATAL DIABETES-MELLITUS | X-LINKED SYNDROME | polyendocrinopathy | stem cell transplantation | BONE-MARROW-TRANSPLANTATION | scurfy mouse regulatory T cells | IMMUNOLOGY | forkhead/winged-helix protein (FOXP3) | immune dysregulation | immunosuppressive therapy | HEPATOCELLULAR-CARCINOMA | X-linked (IPEX) | enteropathy | TRANSCRIPTION FACTOR FOXP3 | IMMUNOLOGICAL SELF-TOLERANCE | ORAL ANTIGEN | SYSTEMIC AUTOIMMUNITY | Polyendocrinopathies, Autoimmune - diagnosis | Humans | Polyendocrinopathies, Autoimmune - therapy | Autoimmunity - genetics | Intestinal Diseases - genetics | Forkhead Transcription Factors - physiology | Autoimmune Diseases - diagnosis | Forkhead Transcription Factors - genetics | Genetic Diseases, X-Linked - diagnosis | Syndrome | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Intestinal Diseases - therapy | Intestinal Diseases - diagnosis | Autoimmune Diseases - therapy | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Genetic Diseases, X-Linked - therapy | T cell receptors | Transplants & implants | Autoimmune diseases | Lymphocytes | Stem cells
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2016, Volume 101, Issue 8, pp. 2975 - 2983
Journal Article
Journal Article