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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
Annales de Dermatologie et de Venereologie, ISSN 0151-9638, 2019, Volume 146, Issue 12, pp. 807 - 811
Background: Primary immunodeficiencies are rare and frequently life-threatening conditions in the first year of life. They may present with isolated skin... 
Genodermatosis | IPEX syndrome | Erythroderma | Ichthyosis | Primary immunodeficiency | IMMUNE DYSREGULATION | NETHERTON SYNDROME | X-LINKED SYNDROME | ENTEROPATHY | POLYENDOCRINOPATHY | MANIFESTATIONS | DERMATOLOGY
Journal Article
by Barzaghi, Federica and Amaya Hernandez, Laura Cristina and Neven, Benedicte and Ricci, Silvia and Kucuk, Zeynep Yesim and Bleesing, Jack J and Nademi, Zohreh and Slatter, Mary Anne and Ulloa, Erlinda Rose and Shcherbina, Anna and Roppelt, Anna and Worth, Austen and Silva, Juliana and Aiuti, Alessandro and Murguia-Favela, Luis and Speckmann, Carsten and Carneiro-Sampaio, Magda and Fernandes, Juliana Folloni and Baris, Safa and Ozen, Ahmet and Karakoc-Aydiner, Elif and Kiykim, Ayca and Schulz, Ansgar and Steinmann, Sandra and Notarangelo, Lucia Dora and Gambineri, Eleonora and Lionetti, Paolo and Shearer, William Thomas and Forbes, Lisa R and Martinez, Caridad and Moshous, Despina and Blanche, Stephane and Fisher, Alain and Ruemmele, Frank M and Tissandier, Come and Ouachee-Chardin, Marie and Rieux-Laucat, Frédéric and Cavazzana, Marina and Qasim, Waseem and Lucarelli, Barbarella and Albert, Michael H and Kobayashi, Ichiro and Alonso, Laura and Diaz De Heredia, Cristina and Kanegane, Hirokazu and Lawitschka, Anita and Seo, Jong Jin and Gonzalez-Vicent, Marta and Diaz, Miguel Angel and Goyal, Rakesh Kumar and Sauer, Martin G and Yesilipek, Akif and Kim, Minsoo and Yilmaz-Demirdag, Yesim and Bhatia, Monica and Khlevner, Julie and Richmond Padilla, Erick J and Martino, Silvana and Montin, Davide and Neth, Olaf and Molinos-Quintana, Agueda and Valverde-Fernandez, Justo and Broides, Arnon and Pinsk, Vered and Ballauf, Antje and Haerynck, Filomeen and Bordon, Victoria and Dhooge, Catharina and Garcia-Lloret, Maria Laura and Bredius, Robbert G and Kałwak, Krzysztof and Haddad, Elie and Seidel, Markus Gerhard and Duckers, Gregor and Pai, Sung-Yun and Dvorak, Christopher C and Ehl, Stephan and Locatelli, Franco and Goldman, Frederick and Gennery, Andrew Richard and Cowan, Mort J and Roncarolo, Maria-Grazia and Bacchetta, Rosa and PIDTC and IEWP and European Soc Blood Marrow and Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 03/2018, Volume 141, Issue 3, pp. 1036 - 1049.e5
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 2012, Volume 3, p. 211
Immune dysregulation, polyendocnnopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic primary immunodeficiency (PID) due to mutations of FOXP3, a... 
Neonatal eczema | Autoimmune enteropathy | Treg | IPEX | FOXP3 | HSCT | Neonatal diabetes | FOXP3,Treg | neonatal diabetes | IMMUNOLOGY | autoimmune enteropathy | neonatal eczema | neonatal enteropathy | Treg cells | Foxp3
Journal Article
Current Opinion in Immunology, ISSN 0952-7915, 2012, Volume 24, Issue 5, pp. 585 - 591
Journal Article
Immunology and Cell Biology, ISSN 0818-9641, 04/2019, Volume 97, Issue 4, pp. 368 - 379
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 04/2018, Volume 1417, Issue 1, pp. 5 - 22
Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome is a rare disorder that increasingly has gained attention as a model of genetic... 
neonatal diabetes | Treg | IPEX | primary immunodeficiency | autoimmune enteropathy | FOXP3 | HSCT | Autoimmune enteropathy | Neonatal diabetes | Primary immunodeficiency | NEONATAL DIABETES-MELLITUS | X-LINKED SYNDROME | BONE-MARROW-TRANSPLANTATION | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | T-reg | SCURFY SF MOUSE | INTRACTABLE DIARRHEA | RECEPTOR STIMULATION | TRANSCRIPTION FACTOR FOXP3 | REGULATORY T-CELLS | Forkhead Transcription Factors - immunology | T-Lymphocyte Subsets - immunology | Genetic Therapy | Immune System Diseases - genetics | Humans | Regulatory Sequences, Nucleic Acid | Diabetes Mellitus, Type 1 - congenital | Male | Diabetes Mellitus, Type 1 - therapy | Diarrhea - immunology | Forkhead Transcription Factors - chemistry | Protein Domains | Female | Genetic Diseases, X-Linked - genetics | Diabetes Mellitus, Type 1 - immunology | Infant, Newborn | Promoter Regions, Genetic | Gene Expression Regulation | Immune System Diseases - immunology | Diabetes Mellitus, Type 1 - genetics | Hematopoietic Stem Cell Transplantation | Forkhead Transcription Factors - genetics | Pregnancy | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Immunosuppression | Models, Immunological | Phenotype | B-Lymphocytes - immunology | Diarrhea - therapy | Diarrhea - genetics | Immune System Diseases - therapy | Models, Genetic | Mutation | Genetic Diseases, X-Linked - therapy | Autoimmunity | Genetic aspects | Transplantation | Type 1 diabetes | Hematopoietic stem cells | Pathogenesis | Diabetes mellitus | Medical services | Immunodeficiency | Stem cell transplantation | Diabetes mellitus (insulin dependent) | Molecular chains | Hemopoiesis | Thymus | Eczema | Skin diseases | Foxp3 protein
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 03/2009, Volume 160, Issue 3, pp. 645 - 651
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 11/2010, Volume 30, Issue 11, pp. 1072 - 1078
Journal Article