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Journal of allergy and clinical immunology, 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 infections (amorphic alleles... 
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
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 51 - 51
Journal Article
Nature (London), ISSN 1476-4687, 2011, Volume 477, Issue 7363, pp. 211 - 215
Journal Article
PloS one, ISSN 1932-6203, 2010, Volume 5, Issue 1, p. e8870
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2018, Volume 172, Issue 5, pp. 897 - 909.e21
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease that is endemic to the Philippines and is associated with a founder haplotype... 
DYT3 | XDP | dystonia | transcriptome assembly | retrotransposon | Parkinson’s disease | genome assembly | intron retention | SVA | TAF1 | Parkinson's disease | II ELONGATION RATE | STEM-CELLS | HUMAN-DISEASE | RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | INTRON RETENTION | GENE-EXPRESSION | INTERFERENCE | SEQUENCING DATA | VARIATION DISCOVERY | CELL BIOLOGY | TATA-Binding Protein Associated Factors - metabolism | Humans | Histone Acetyltransferases - genetics | Nerve Degeneration - genetics | Male | Genetic Loci | Transcription Factor TFIID - metabolism | RNA, Messenger - metabolism | Transcription Factor TFIID - genetics | Haplotypes - genetics | Short Interspersed Nucleotide Elements | Base Sequence | Histone Acetyltransferases - metabolism | Minisatellite Repeats - genetics | Female | Genetic Diseases, X-Linked - genetics | Neurons - metabolism | Alu Elements - genetics | Induced Pluripotent Stem Cells - metabolism | Dystonic Disorders - genetics | Introns - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Transcriptome - genetics | TATA-Binding Protein Associated Factors - genetics | CRISPR-Cas Systems - genetics | Nerve Degeneration - pathology | Family | High-Throughput Nucleotide Sequencing | Models, Genetic | Genome, Human | Neural Stem Cells - metabolism | Cohort Studies | Nervous system diseases | Analysis | Genomics | Genetic research | Genetic aspects | Dystonia
Journal Article
Current Opinion in Pediatrics, ISSN 1040-8703, 12/2013, Volume 25, Issue 6, pp. 708 - 714
Purpose of reviewTo summarize recent progress in our understanding of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX... 
ITCH | autoimmunity | STAT1 | T regulatory cells | STAT5 | CD25 | FOXP3 | tolerance | TGF-BETA | GROWTH-HORMONE INSENSITIVITY | STAT5B MUTATION | CHRONIC MUCOCUTANEOUS CANDIDIASIS | CUTTING EDGE | INTESTINAL INFLAMMATION | ALPHA-CHAIN | TRANSCRIPTION FACTOR FOXP3 | REGULATORY T-CELLS | PEDIATRICS | SCURFY MOUSE MUTANT | Forkhead Transcription Factors - immunology | Immunologic Deficiency Syndromes - pathology | Humans | STAT5 Transcription Factor - immunology | Autoimmunity - genetics | Diabetes Mellitus, Type 1 - congenital | Male | Intestinal Diseases - immunology | Diarrhea - pathology | T-Lymphocytes, Regulatory - immunology | STAT5 Transcription Factor - genetics | Ubiquitin-Protein Ligases - immunology | Interleukin-2 Receptor alpha Subunit - genetics | Autoimmunity - immunology | Diarrhea - immunology | Female | Genetic Diseases, X-Linked - genetics | Polyendocrinopathies, Autoimmune - genetics | Immunologic Deficiency Syndromes - immunology | Interleukin-2 Receptor alpha Subunit - immunology | Genetic Predisposition to Disease | Intestinal Diseases - genetics | Repressor Proteins - genetics | Polyendocrinopathies, Autoimmune - pathology | Forkhead Transcription Factors - genetics | Mutation - genetics | Polyendocrinopathies, Autoimmune - immunology | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Autoantibodies - immunology | Diarrhea - genetics | Repressor Proteins - immunology | Genetic Diseases, X-Linked - pathology | Immunologic Deficiency Syndromes - genetics | Ubiquitin-Protein Ligases - genetics | Intestinal Diseases - pathology | Tolerance
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2014, Volume 371, Issue 15, pp. 1407 - 1417
Journal Article