المؤلفون: Lea Regoršek Vrabec, Tina Leban, Katarina Trebušak Podkrajšek, Nataša Bratina, Sara Bertok, Alenka Pavlič, Magdalena Avbelj Stefanija

المصدر: Slovenska pediatrija, Vol 27, Iss 1, Pp 9-14 (2020)

مصطلحات موضوعية: autoimmune polyendocrinopathy with can- didiasis and ectodermal dystrophy (apeced), autoimmune, mucocutaneous candidiasis, hypoparathyroidism, addison’s disease, enamel hypoplasia, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.slovenskapediatrija.si/Portals/0/Clanki/2020/Slovpediatr-2020-1-02en.pdf; https://doaj.org/toc/1318-4423; https://doaj.org/toc/2712-3960

URL الوصول: https://doaj.org/article/56cb28d9be8245bc84c990d26ec3f848

المؤلفون: Elise M. N. Ferré, Michail S. Lionakis

المصدر: Frontiers in Immunology, Vol 11 (2021)

مصطلحات موضوعية: Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune polyglandular syndrome type-1 (APS-1), autoimmune regulator (AIRE), pneumonitis, interstitial lung disease, bronchiectasis, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2020.609253/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/bffe29190f5841f6aa88c4fd91ab102f

المؤلفون: Carpino A., Buganza R., Matarazzo P., Tuli G., Pinon M., Calvo P. L., Montin D., Licciardi F., De Sanctis L.

المساهمون: Carpino A., Buganza R., Matarazzo P., Tuli G., Pinon M., Calvo P.L., Montin D., Licciardi F., De Sanctis L.

مصطلحات موضوعية: Autoimmune polyendocrinopathy, Candidiasi, Ectodermal dystrophy (APECED), AIRE gene, genotype, Phenotype correlation, Adolescent, COVID-19, Child, Preschool, Female, Human, Infant, Newborn, Male, Mutation, Phenotype, Polyendocrinopathies, Autoimmune, Siblings

Relation: info:eu-repo/semantics/altIdentifier/pmid/33530632; info:eu-repo/semantics/altIdentifier/wos/WOS:000622571500001; volume:12; issue:2; firstpage:1; lastpage:7; numberofpages:7; journal:GENES; http://hdl.handle.net/2318/1798057; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100162005

الاتاحة: http://hdl.handle.net/2318/1798057
https://doi.org/10.3390/genes12020169

المؤلفون: Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A. M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M. C., Stigliano A., Radetti G., Camozzi V., Greggio N. A., Bogazzi F., Chiodini I., Pagotto U., Black S. K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C.

المساهمون: Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A.M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M.C., Stigliano A., Radetti G., Camozzi V., Greggio N.A., Bogazzi F., Chiodini I., Pagotto U., Black S.K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C.

مصطلحات موضوعية: Addison’s disease, AIRE gene mutation, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasi, Interferon autoantibodies

Relation: info:eu-repo/semantics/altIdentifier/pmid/34003463; info:eu-repo/semantics/altIdentifier/wos/WOS:000651689200002; firstpage:1; lastpage:18; numberofpages:18; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; http://hdl.handle.net/2318/1798169; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106226694

الاتاحة: http://hdl.handle.net/2318/1798169
https://doi.org/10.1007/s40618-021-01585-6

المؤلفون: Linda Humbert, Marjorie Cornu, Emmanuelle Proust-Lemoine, Jagadeesh Bayry, Jean-Louis Wemeau, Marie-Christine Vantyghem, Boualem Sendid

المصدر: Frontiers in Immunology, Vol 9 (2018)

مصطلحات موضوعية: autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), chronic mucocutaneous candidiasis (CMC), autoimmune regulator (AIRE) gene, IL-17, IL-22, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.02570/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/b3d93370f54d457f96eda73cadd5c45d

المؤلفون: F. Bogazzi, Giorgio Radetti, Mariacarolina Salerno, B. Rees Smith, Stefano Masiero, L. de Sanctis, F. Presotto, Carla Giordano, Roberto Perniola, Valentina Camozzi, C. Betterle, Carla Scaroni, Antonella Meloni, Sarah Black, Francesca Pigliaru, Chiara Sabbadin, Alessandra Fierabracci, Carla Bizzarri, Marco Cappa, Garvin Weber, Donatella Capalbo, Susi Barollo, Jadwiga Furmaniak, Mariella Valenzise, Antonio Stigliano, A. Crinò, N. A. Greggio, Riccardo Scarpa, Silvia Garelli, Uberto Pagotto, M. Dalla Costa, A. De Bellis, Iacopo Chiodini, Shu Chen, Beatrice Rubin

المساهمون: Garelli, S., Dalla Costa, M., Sabbadin, C., Barollo, S., Rubin, B., Scarpa, R., Masiero, S., Fierabracci, A., Bizzarri, C., Crino, A., Cappa, M., Valenzise, M., Meloni, A., De Bellis, A. M., Giordano, C., Presotto, F., Perniola, R., Capalbo, D., Salerno, M., Stigliano, A., Radetti, G., Camozzi, V., Greggio, N. A., Bogazzi, F., Chiodini, I., Pagotto, U., Black, S. K., Chen, S., Rees Smith, B., Furmaniak, J., Weber, G., Pigliaru, F., De Sanctis, L., Scaroni, C., Betterle, C., Garelli S., Dalla Costa M., Sabbadin C., Barollo S., Rubin B., Scarpa R., Masiero S., Fierabracci A., Bizzarri C., Crino A., Cappa M., Valenzise M., Meloni A., De Bellis A.M., Giordano C., Presotto F., Perniola R., Capalbo D., Salerno M.C., Stigliano A., Radetti G., Camozzi V., Greggio N.A., Bogazzi F., Chiodini I., Pagotto U., Black S.K., Chen S., Rees Smith B., Furmaniak J., Weber G., Pigliaru F., De Sanctis L., Scaroni C., Betterle C., Garelli, S, Dalla Costa, M, Sabbadin, C, Barollo, S, Rubin, B, Scarpa, R, Masiero, S, Fierabracci, A, Bizzarri, C, Crinò, A, Cappa, M, Valenzise, M, Meloni, A, De Bellis, A M, Giordano, C, Presotto, F, Perniola, R, Capalbo, D, Salerno, M C, Stigliano, A, Radetti, G, Camozzi, V, Greggio, N A, Bogazzi, F, Chiodini, I, Pagotto, U, Black, S K, Chen, S, Rees Smith, B, Furmaniak, J, Weber, G, Pigliaru, F, De Sanctis, L, Scaroni, C, Betterle, C

المصدر: Journal of Endocrinological Investigation

مصطلحات موضوعية: Male, Transcription Factor, Endocrinology, Diabetes and Metabolism, Autoimmune hepatitis, Gene mutation, Gastroenterology, Chronic mucocutaneous candidiasis, Endocrinology, Addison Disease, Autoimmune Polyglandular Syndrome type 1 (APS-1), Prevalence, Medicine, Polyendocrinopathies, Autoimmune, Candidiasis, Chronic Mucocutaneou, Addison’s disease, AIRE gene mutations, Autoimmune Polyglandular Syndrome type 1 (APS-1), Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), Chronic hypoparathyroidism, Chronic mucocutaneous candidiasis, Interferon autoantibodies, Candidiasis, Chronic Mucocutaneous, AIRE gene mutations, Addison’s disease, autoimmune polyglandular syndrome type 1 (APS-1), autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), chronic hypoparathyroidism, chronic mucocutaneous candidiasis, interferon autoantibodies, Autoimmune regulator, Autoantibodie, Italy, Interferon autoantibodie, Addison's disease, Interferon Type I, Original Article, Female, Chronic hypoparathyroidism, Human, Adult, medicine.medical_specialty, Autoimmune Gastritis, Hypoparathyroidism, Internal medicine, Interferon autoantibodies, Humans, Mortality, Autoantibodies, Autoimmune-poly-endocrine-candidiasis-ectodermal-dystrophy (APECED), business.industry, Chronic mucocutaneous candidiasi, AIRE gene mutation, Autoantibody, medicine.disease, Autoimmune polyendocrine syndrome type 1, Mutation, business, Transcription Factors

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5fd2c7ee684fd4d65c71851e2fdb32
http://hdl.handle.net/11568/1123121

المؤلفون: Raffaele Buganza, Davide Montin, Gerdi Tuli, Luisa de Sanctis, P Matarazzo, Andrea Carpino, Francesco Licciardi, Pier Luigi Calvo, Michele Pinon

المصدر: Genes, Vol 12, Iss 169, p 169 (2021)
Genes

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, lcsh:QH426-470, genotype, Case Report, 030209 endocrinology & metabolism, Autoimmune polyendocrinopathy, Candidiasis, Ectodermal dystrophy (APECED), AIRE gene, Phenotype correlation, COVID-19, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Mutation, Phenotype, Polyendocrinopathies, Autoimmune, Siblings, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Genotype, Genetics, medicine, Epigenetics, Chronic mucocutaneous candidiasis, Preschool, Genetics (clinical), Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), business.industry, Dystrophy, genotype–phenotype correlation, Newborn, medicine.disease, lcsh:Genetics, 030104 developmental biology, Polyendocrinopathies, Hypoparathyroidism, Immunology, business, Autoimmune

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd4ed3d2c80137f9d8bb289777d6e08
https://www.mdpi.com/2073-4425/12/2/169

المؤلفون: Konstantina Alexandropoulos, Anthony Bonito, Erica Weinstein, Olivier Herbin

المصدر: International Journal of Molecular Sciences; Volume 16; Issue 1; Pages: 1980-2000

مصطلحات موضوعية: autoimmune hepatitis (AIH), T-cells, medullary thymic epithelial cells, medullary thymic epithelial cells (mTECs), central tolerance, peripheral tolerance, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), autoimmune polyendocrine syndrome (APS), regulatory T-cells, soluble liver antigen, antinuclear antibodies

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms16011980

الاتاحة: https://doi.org/10.3390/ijms16011980

المؤلفون: Moraes-Vasconcelos, D., Costa-Carvalho, B. T. UNIFESP, Torgerson, T. R., Ochs, H. D.

المساهمون: Universidade de São Paulo (USP), Universidade Federal de São Paulo (UNIFESP), Univ Washington, Childrens Hosp

مصطلحات موضوعية: autoinimunity, autoimmune regulator (AIRE), autoininume polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), forkhead box P3 (FOXP3), immune tolerance, immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX), primary immune deficiency disorders (PIDD)

وصف الملف: S11-S19

Relation: Journal of Clinical Immunology; http://dx.doi.org/10.1007/s10875-008-9176-5; Journal of Clinical Immunology. New York: Springer/plenum Publishers, v. 28, p. S11-S19, 2008.; http://repositorio.unifesp.br/handle/11600/30632; WOS:000257195600003

الاتاحة: http://repositorio.unifesp.br/handle/11600/30632
https://doi.org/10.1007/s10875-008-9176-5

المؤلفون: Pekka Ellonen, Johanna Aaltonen, Meelis Kolmer, Jaakko Perheentupa, Leena Peltonen, Ismo Ulmanen, Petra Björses, Jorma J. Palvimo, Maria Halonen

المصدر: The American Journal of Human Genetics. (2):378-392

مصطلحات موضوعية: Male, Cytoplasm, Autoimmunity, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Exon, Transactivation, 0302 clinical medicine, Genes, Reporter, Ethnicity, Missense mutation, Genetics(clinical), Chronic mucocutaneous candidiasis, Polyendocrinopathies, Autoimmune, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Mutation(s), Genetics, 0303 health sciences, Exons, Articles, Autoimmune polyendocrinopathy, Autoimmune regulator, Immunohistochemistry, 3. Good health, Codon, Nonsense, 030220 oncology & carcinogenesis, Female, Transcriptional Activation, animal structures, Recombinant Fusion Proteins, Molecular Sequence Data, Mutation, Missense, Biology, Cell Line, 03 medical and health sciences, autoimmune polyglandular syndrome type I (APS I), medicine, Animals, Humans, Gene, Alleles, 030304 developmental biology, Biological Transport, medicine.disease, Subcellular location, Autoimmune polyendocrine syndrome type 1, Haplotypes, Mutation, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acaa2a0bec97210d857bc316f4dad138