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1. Full Text Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
by Schubert, Desireé and Bode, Claudia and Kenefeck, Rupert and Hou, Tie Zheng and Wing, James B and Kennedy, Alan and Bulashevska, Alla and Petersen, Britt-Sabina and Schäffer, Alejandro A and Grüning, Björn A and Unger, Susanne and Frede, Natalie and Baumann, Ulrich and Witte, Torsten and Schmidt, Reinhold E and Dueckers, Gregor and Niehues, Tim and Seneviratne, Suranjith and Kanariou, Maria and Speckmann, Carsten and Ehl, Stephan and Rensing-Ehl, Anne and Warnatz, Klaus and Rakhmanov, Mirzokhid and Thimme, Robert and Hasselblatt, Peter and Emmerich, Florian and Cathomen, Toni and Backofen, Rolf and Fisch, Paul and Seidl, Maximilian and May, Annette and Schmitt-Graeff, Annette and Ikemizu, Shinji and Salzer, Ulrich and Franke, Andre and Sakaguchi, Shimon and Walker, Lucy S. K and Sansom, David M and Grimbacher, Bodo
Nature Medicine, ISSN 1078-8956, 12/2014, Volume 20, Issue 12, pp. 1410 - 1416
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice.... 
PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURE | HOMEOSTASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | AUTOIMMUNITY | REGULATORY T-CELLS | GERMLINE MUTATIONS | MICE | BLOCKADE | IMMUNODEFICIENCY | ABATACEPT | Recurrence | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Exons | Immune System Diseases - genetics | Humans | Middle Aged | Male | Anemia, Hemolytic, Autoimmune - genetics | Mutation, Missense | Respiratory Tract Infections - genetics | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Young Adult | Purpura, Thrombocytopenic, Idiopathic - immunology | Adult | Female | Endocytosis - genetics | Polyendocrinopathies, Autoimmune - genetics | Child | Endocytosis - immunology | Granuloma - genetics | Autoimmune Diseases - immunology | CTLA-4 Antigen - genetics | B7-1 Antigen - metabolism | Codon, Nonsense | CTLA-4 Antigen - immunology | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Lung Diseases, Interstitial - immunology | Animals | B-Lymphocytes - immunology | Lung Diseases, Interstitial - genetics | Pedigree | Anemia, Hemolytic, Autoimmune - immunology | Adolescent | Respiratory Tract Infections - immunology | Granuloma - immunology | Heterozygote | Mice | Antigens | Gene mutations | Physiological aspects | Genetic aspects | Immunologic diseases | Research | Risk factors | Proteins | Homeostasis | Cytotoxicity | Ligands | T cell receptors | Mutation | Immune system
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2. Full Text Genetics of vasculitis
by Carmona, Francisco David and Martín, Javier and González-Gay, Miguel A
Current Opinion in Rheumatology, ISSN 1040-8711, 01/2015, Volume 27, Issue 1, pp. 10 - 17
PURPOSE OF REVIEWWe aim to give an overview of the recent progress in the knowledge of the genetic component of vasculitides. RECENT FINDINGSUsing a... 
Genome-wide association studies | Major histocompatibility complex | Vasculitides | Immunochip | Genetic component | genetic component | immunochip | VARIANTS | TAKAYASU ARTERITIS | SUSCEPTIBILITY LOCI | major histocompatibility complex | BEHCETS-DISEASE | RHEUMATOLOGY | IDENTIFICATION | vasculitides | MHC CLASS-I | KAWASAKI-DISEASE | HENOCH-SCHONLEIN PURPURA | genome-wide association studies | GENOME-WIDE ASSOCIATION | GIANT-CELL ARTERITIS | Genotype | Genetic Predisposition to Disease | Vasculitis - genetics | Genetic Markers | Major Histocompatibility Complex - genetics | Humans
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3. Full Text The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family
by Kelwick, Richard and Desanlis, Ines and Wheeler, Grant N and Edwards, Dylan R
Genome Biology, ISSN 1474-7596, 05/2015, Volume 16, Issue 1, p. 113
The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) enzymes are secreted, multi-domain matrix-associated zinc metalloendopeptidases... 
HUMAN ARTICULAR-CARTILAGE | EMERGING ROLES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL-MIGRATION | GENETICS & HEREDITY | INTERDIGITAL WEB REGRESSION | TUMOR-SUPPRESSOR | EXTRACELLULAR-MATRIX | OLIGOMERIC MATRIX PROTEIN | THROMBOTIC THROMBOCYTOPENIC PURPURA | VON-WILLEBRAND-FACTOR | WEILL-MARCHESANI-SYNDROME | Endopeptidases - metabolism | Catalytic Domain | Multigene Family | Disintegrins - metabolism | Thrombospondins - genetics | Humans | Gene Expression Regulation | Extracellular Matrix - metabolism | Substrate Specificity | Arthritis - genetics | Cardiovascular Diseases - genetics | Disintegrins - genetics | ADAM Proteins - metabolism | Animals | Endopeptidases - genetics | Neoplasms - genetics | ADAM Proteins - genetics | Thrombospondins - metabolism | Disease Models, Animal | Evolution, Molecular | Peptides | Genes | Proteinase | Genomes | Arthritis | Metastasis | Cartilage oligomeric matrix protein | Metastases | Cell adhesion & migration | Proteins | Morphogenesis | Cartilage | Epidermal growth factor | Substrate specificity | Phylogenetics | Extracellular matrix | Physiology | Tumorigenesis | Matrix protein | Localization | Thrombospondin | Enzymes | ADAM protein | ADAMTS-1 protein | Procollagen | Proteoglycans | Therapeutic applications | Maximum likelihood method | Insects | Collagen | Chondroitin sulfate | Cardiovascular diseases | Cancer | Structure-function relationships | Protein Family Review
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4. Full Text Is there a crossroad between infections, genetics, and Henoch–Schönlein purpura?
by Rigante, Donato and Castellazzi, Luca and Bosco, Annalisa and Esposito, Susanna
Autoimmunity Reviews, ISSN 1568-9972, 2013, Volume 12, Issue 10, pp. 1016 - 1021
Abstract Henoch–Schönlein purpura is the most common systemic vasculitis in childhood, characterized by the presence of immunoglobulin A deposits in the small... 
Allergy and Immunology | Infection | Genetics | Child | Henoch–Schönlein purpura | Henoch-Schönlein purpura | Henoch-Schonlein purpura | BARTONELLA-HENSELAE | IMMUNOLOGY | CHINESE CHILDREN | RHEUMATIC CARDITIS | HELICOBACTER-PYLORI INFECTION | RENAL INVOLVEMENT | PARVOVIRUS B19 | ANAPHYLACTOID PURPURA | GROWTH-FACTOR | ASSOCIATION | HEPATITIS-A INFECTION | Purpura (Pathology) | Immunoglobulin A | Health aspects
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5. Full Text An update on the role of epigenetics in systemic vasculitis
by Coit, Patrick and Direskeneli, Haner and Sawalha, Amr H
Current Opinion in Rheumatology, ISSN 1040-8711, 01/2018, Volume 30, Issue 1, pp. 4 - 15
PURPOSE OF REVIEWThe purpose of this review is to discuss recent observations of epigenetic changes related to the complex pathogenesis of systemic... 
systemic vasculitis | DNA methylation | microRNA | histone modification | epigenetics | microRNA systemic vasculitis | DNA METHYLATION CHANGES | SUSCEPTIBILITY | MICRORNAS | RHEUMATOLOGY | BLOOD MONONUCLEAR-CELLS | PATHOGENESIS | OCULAR BEHCETS-DISEASE | UP-REGULATION | EXPRESSION | TH17 | T-CELLS | Epigenomics | Systemic Vasculitis - genetics | Gene Expression Regulation - genetics | Humans | DNA Methylation - genetics | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis - genetics | Giant Cell Arteritis - genetics | Mucocutaneous Lymph Node Syndrome - genetics | Epigenesis, Genetic - genetics | Biomarkers | MicroRNAs - genetics | Behcet Syndrome - genetics | Purpura, Schoenlein-Henoch - genetics | Histone Code - genetics | Epigenetic inheritance | Vasculitis | Research | Analysis
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6. Full Text CD3G Gene Defects in Familial Autoimmune Thyroiditis
by Gokturk, B and Keles, S and Kirac, M and Artac, H and Tokgoz, H and Guner, S. N and Caliskan, U and Caliskaner, Z and Burg, M and Dongen, J and Morgan, N. V and Reisli, I
Scandinavian Journal of Immunology, ISSN 0300-9475, 11/2014, Volume 80, Issue 5, pp. 354 - 361
The patients with CD3γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new... 
LACKING | COMPLEX | CD3-GAMMA SUBUNIT | IMMUNOLOGY | EXPRESSION | ASSOCIATION | DEFICIENCY | TRANSPLANTATION | Dermatitis, Atopic - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Humans | Immunoglobulin E - biosynthesis | Autoimmunity - genetics | Infant | Male | Anemia, Hemolytic, Autoimmune - genetics | Young Adult | CD3 Complex - genetics | Immunoglobulin E - immunology | Immunoglobulin E - genetics | Killer Cells, Natural - immunology | Adult | Female | Hepatitis, Autoimmune - genetics | Child | Genetic Predisposition to Disease | Genetic Association Studies | Nephrosis, Lipoid - genetics | Thyroiditis, Autoimmune - genetics | Antibodies, Antinuclear - genetics | B-Lymphocytes - immunology | Pedigree | T-Lymphocytes - immunology | Lymphopenia - immunology | Lymphopenia - genetics | Vitiligo - genetics | Autoimmunity | Genetic aspects | Thyroiditis, Autoimmune | Genes
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7. Full Text STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity
by Picard, Capucine and McCarl, Christie-Ann and Papolos, Alexander and Khalil, Sara and Lüthy, Kevin and Hivroz, Claire and LeDeist, Francoise and Rieux-Laucat, Frédéric and Rechavi, Gideon and Rao, Anjana and Fischer, Alain and Feske, Stefan
The New England Journal of Medicine, ISSN 0028-4793, 05/2009, Volume 360, Issue 19, pp. 1971 - 1980
This report describes three siblings with susceptibility to bacterial and viral infections, autoimmune hemolytic anemia, immune thrombocytopenia,... 
Stromal Interaction Molecule 1 | Calcium Channels - metabolism | Purpura, Thrombocytopenic, Idiopathic - genetics | Calcium - metabolism | Membrane Proteins - genetics | Humans | Infant | Male | Anemia, Hemolytic, Autoimmune - genetics | Codon, Nonsense | RNA, Messenger - metabolism | Sequence Analysis, DNA | Syndrome | Autoimmune Diseases - genetics | Pedigree | Fatal Outcome | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Female | Neoplasm Proteins - genetics | Autoimmune Diseases - metabolism | Calcium Channels - genetics | Child | Siblings | Physiological aspects | Calcium channels | Genetic aspects | Hemolytic anemia | Health aspects | Immunodeficiency
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8. Full Text The genetics of Henoch–Schönlein purpura: a systematic review and meta-analysis
by He, Xuelian and Yu, Chunhua and Zhao, Peiwei and Ding, Yan and Liang, Xiaohui and Zhao, Yulan and Yue, Xin and Wu, Yanxiang and Yin, Wei
Rheumatology International, ISSN 0172-8172, 6/2013, Volume 33, Issue 6, pp. 1387 - 1395
Henoch–Schönlein purpura (HSP) is the most common form of systemic vasculitis of unknown etiology. This study aimed at reviewing published studies... 
Genetic association studies | Medicine & Public Health | Genetic polymorphisms | Rheumatology | Henoch–Schönlein purpura | Henoch-Schönlein purpura | CUTANEOUS VASCULITIS | CONVERTING ENZYME GENE | SUSCEPTIBILITY | Henoch-Schonlein purpura | POLYMORPHISM | RHEUMATOLOGY | CHILDREN | FAMILIAL MEDITERRANEAN FEVER | NEPHRITIS | RENAL INVOLVEMENT | GROWTH-FACTOR | ASSOCIATION | Peptidyl-Dipeptidase A - genetics | Genes, MHC Class II | Genome-Wide Association Study | Humans | Cytokines - genetics | Purpura, Schoenlein-Henoch - genetics | Polymorphism, Genetic | Purpura (Pathology) | Enzymes | Histocompatibility antigens | Endothelial growth factors | Analysis | Nitric oxide | Genes | Genomics | HLA histocompatibility antigens | Angiotensin | Heat shock proteins | Genetic aspects
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9. Full Text Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
by Caprioli, Jessica and Noris, Marina and Brioschi, Simona and Pianetti, Gaia and Castelletti, Federica and Bettinaglio, Paola and Mele, Caterina and Bresin, Elena and Cassis, Linda and Gamba, Sara and Porrati, Francesca and Bucchioni, Sara and Monteferrante, Giuseppe and Fang, Celia J and Liszewski, M.K and Kavanagh, David and Atkinson, John P and Remuzzi, Giuseppe and Int Registry Recurrent Familial and International Registry of Recurrent and Familial HUS/TTP and for the International Registry of Recurrent and Familial HUS/TTP
Blood, ISSN 0006-4971, 08/2006, Volume 108, Issue 4, pp. 1267 - 1279
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic... 
COMPLEMENT FACTOR-H | HEMOLYTIC-UREMIC SYNDROME | LIVER-TRANSPLANTATION | ESCHERICHIA-COLI O157-H7 | ENDOTHELIAL-CELLS | THERAPEUTIC PLASMA-EXCHANGE | BINDING-SITE | RENAL-TRANSPLANTATION | THROMBOTIC THROMBOCYTOPENIC PURPURA | HEMATOLOGY | MEMBRANE COFACTOR PROTEIN | Membrane Cofactor Protein - biosynthesis | Plasma | Recurrence | Gene Frequency - genetics | Protein Binding - genetics | Humans | Male | Hemolytic-Uremic Syndrome - genetics | Complement C3b - metabolism | Female | Hemolytic-Uremic Syndrome - therapy | Protein Biosynthesis - genetics | Complement Factor I - biosynthesis | Shiga Toxin | Hemolytic-Uremic Syndrome - metabolism | Complement Factor I - genetics | Genotype | Treatment Outcome | Complement Factor H - biosynthesis | Kidney Transplantation | Blood Component Transfusion | Complement C3b - genetics | Membrane Cofactor Protein - genetics | Mutation | Complement Factor H - genetics | Hemostasis, Thrombosis, and Vascular Biology
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10. Full Text Twin studies in autoimmune disease: Genetics, gender and environment
by Bogdanos, Dimitrios P and Smyk, Daniel S and Rigopoulou, Eirini I and Mytilinaiou, Maria G and Heneghan, Michael A and Selmi, Carlo and Eric Gershwin, M
Journal of Autoimmunity, ISSN 0896-8411, 2011, Volume 38, Issue 2, pp. J156 - J169
Abstract Twin studies are powerful tools to discriminate whether a complex disease is due to genetic or environmental factors. High concordance rates among... 
Allergy and Immunology | Autoimmunity | Infection | Disease | Genes | Environment | Genetics | Gender | DEPENDENT DIABETES-MELLITUS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | PRIMARY SJOGRENS-SYNDROME | MAJOR HISTOCOMPATIBILITY COMPLEX | IMMUNOLOGY | IDIOPATHIC THROMBOCYTOPENIC PURPURA | INFLAMMATORY-BOWEL-DISEASE | GLUTEN-SENSITIVE ENTEROPATHY | PRIMARY BILIARY-CIRRHOSIS | GENOME-WIDE ASSOCIATION | PRIMARY SCLEROSING CHOLANGITIS | Autoimmune Diseases - genetics | Twins, Monozygotic - genetics | Humans | Sex Factors | Female | Male | Twin Studies as Topic | Autoimmune Diseases - etiology | Twins, Dizygotic - genetics | Type 2 diabetes | Medical colleges | Multiple sclerosis | Genomics | HLA histocompatibility antigens | Antibodies | Arthritis | Hepatitis | Physiological aspects | Chromosomes | Medical research | Liver diseases | Systemic scleroderma | Thyroid diseases | Scleroderma (Disease) | Crohn's disease | Viral antibodies | Rheumatoid factor | Histocompatibility antigens | Type 1 diabetes | Analysis | Gastrointestinal diseases | Rheumatoid arthritis | Medicine, Experimental | Genetic research | Diabetes | Ulcerative colitis
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