المؤلفون: Margherita S. Silani, Edoardo Simonetta, Andrea Gramegna, Alessandro De Angelis, Francesco Blasi, Stefano Aliberti

المصدر: BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: Bronchiectasis, APECED, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Autoimmune polyendocrine Syndrome-1, APS-1, Autoimmune pneumonitis, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2466

URL الوصول: https://doaj.org/article/32fc7d8d461a4c76998cdb7dc73cbbb3

المؤلفون: Laakso, Saila, Tong, Xiaoyu, Blouin, Stephane, Keplinger, Petra, Välimäki, Ville-Valtteri, Kröger, Heikki, Mäkitie, Outi, Hartmann, Markus A.

المساهمون: Faculty Common Matters (Faculty of Medicine), HUS Children and Adolescents, Children's Hospital, CAMM - Research Program for Clinical and Molecular Metabolism, Clinicum, Research Programs Unit, HUS Musculoskeletal and Plastic Surgery, I kirurgian klinikka (Töölö), Lastentautien yksikkö

مصطلحات موضوعية: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, Autoimmune regulator, Bone histomorphometry, Quantitative backscattered electron imaging, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: Laakso , S , Tong , X , Blouin , S , Keplinger , P , Välimäki , V-V , Kröger , H , Mäkitie , O & Hartmann , M A 2023 , ' Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I : Report on Three Cases ' , Calcified Tissue International , vol. 112 , no. 6 , pp. 675-682 . https://doi.org/10.1007/s00223-023-01077-0; ORCID: /0000-0002-4547-001X/work/155651703; http://hdl.handle.net/10138/571964; a6534582-b530-45a5-af01-5f2de5ab1a19; 000954504400001

الاتاحة: http://hdl.handle.net/10138/571964

المؤلفون: Фоменко, Н.М., Синоверська, О.Б., Березна, Т.Г., Чорна, Н.В., Бобрикович, О.С.

المصدر: Modern Pediatrics. Ukraine; No. 3(139) (2024): Modern pediatrics. Ukraine; 129-135 ; Modern Pediatrics. Ukraine; № 3(139) (2024): Сучасна педіатрія. Україна; 129-135 ; Сучасна педіатрія. Україна; № 3(139) (2024): Сучасна педіатрія. Україна; 129-135 ; 2706-6134 ; 2663-7553

مصطلحات موضوعية: аутоімунні полігландулярні синдроми, гіпопаратиреоз, наднирникова недостатність, кандидоз, гіпогонадизм, ектодермальна дистрофія, діти, autoimmune polyendocrine syndromes, hypoparathyroidism, adrenal insufficiency, candidiasis, hypogonadism, ectodermal dystrophy, children

وصف الملف: application/pdf

Relation: http://mpu.med-expert.com.ua/article/view/307397/298797; http://mpu.med-expert.com.ua/article/view/307397

الاتاحة: http://mpu.med-expert.com.ua/article/view/307397

المؤلفون: Ridha, Muneera Fadhil^{1, 1}, Zubaidi, Munib Ahmed Al²

المصدر: Research Journal of Pharmacy and Technology 15(12):5789-5792. 2022

المؤلفون: Barreto Espinoza, Lorena Esperanza, Rojas Lárez, Ronald Antonio, Sánchez Mago, Jairo Alexander, Macuarisma Lezama, Pedro

المصدر: Archivos Venezolanos de Puericultura y Pediatría; Vol. 77 Núm. 3 (2014): Julio-Septiembre; 133-136 ; 0004-0649

مصطلحات موضوعية: Poliendocrinopatía Autoinmune, Hipoparatiroidismo, Candidiasis, Distrofia Ectodérmica, Enfermedad de Addison, Autoimmune Polyendocrinopathy, Hypoparathyroidism, Ectodermal Dystrophy, Addison's Disease

وصف الملف: application/pdf

Relation: http://saber.ucv.ve/ojs/index.php/revista_avpp/article/view/27058/144814492926; http://190.169.94.12/ojs/index.php/revista_avpp/article/view/27058

الاتاحة: http://190.169.94.12/ojs/index.php/revista_avpp/article/view/27058

المؤلفون: Özer Y., Turan H., Dağdeviren Çaklr A., Gökalp S., Ocak Z., Ercan O., Evliyaoğlu O.

مصطلحات موضوعية: Adrenal insufficiency, AIRE gene, APS1, Left ventricular systolic dysfunction, amino terminal pro brain natriuretic peptide, autoimmune regulator protein, calcitriol, corticotropin, hydrocortisone, parathyroid hormone, Article, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, case report, child, clinical article, clinical evaluation, computer assisted tomography, consanguineous marriage, corticotropin blood level, disease association, echocardiography, electrocardiography, enamel hypoplasia, female, gene, genetic variability, homozygosity, human, hydrocortisone blood level, hyperphosphatemia

وصف الملف: application/pdf

Relation: Molecular Syndromology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1159/000526221; https://hdl.handle.net/20.500.12831/19738; 14; 65; 70; 2-s2.0-85141244340

الاتاحة: https://doi.org/10.1159/000526221
https://hdl.handle.net/20.500.12831/19738

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: Børre Fevang, Klaus Warnatz, John R. Hurst

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: interstitial lung disease (ILD), primary immunodeficencies (PID), common variable immune deficiency (CVID), granulomatous lymphocytic interstitial lung disease (GLILD), APECED, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.699126/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/8ae9f39c38e1459481eefb5bf36d666e

المؤلفون: Inbal Halabi, Marie Noufi Barohom, Sarit Peleg, Phillippe Trougouboff, Ghadir Elias-Assad, Rhania Agbaria, Yardena Tenenbaum-Rakover

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: autoimmune polyglandular type 1 syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, autoimmune regulator gene, autoimmune enteropathy, hypocalcemia, enteroendocrine cell, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.645279/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/ee36ead201fa4fbcadc6d218d37db75b

المؤلفون: Go Kawano, Takaoki Yokochi, Ryuta Nishikomori, Yoriko Watanabe, Keizo Ohbu, Yukitoshi Takahashi, Haruo Shintaku, Toyojiro Matsuishi

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, infantile spasms, West syndrome, hypsarrhythmia, anti-N-methyl-D-aspartate receptor encephalitis, rituximab, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.679164/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/eb7c93aa9feb480db7a8d71b896a734d

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: Fevang, B, Warnatz, K, Hurst, JR

المصدر: Frontiers in Immunology , 12 , Article 699126. (2021)

مصطلحات موضوعية: interstitial lung disease (ILD), primary immunodeficencies (PID), common variable immune deficiency (CVID), granulomatous lymphocytic interstitial lung disease (GLILD), APECED, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10132808/1/fimmu-12-699126.pdf; https://discovery.ucl.ac.uk/id/eprint/10132808/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10132808/1/fimmu-12-699126.pdf
https://discovery.ucl.ac.uk/id/eprint/10132808/

المؤلفون: Peterson, Pärt, Kisand, Kai, Kluger, Nicolas, Ranki, Annamari

المساهمون: HUS Inflammation Center, Department of Dermatology, Allergology and Venereology, University of Helsinki, Clinicum

مصطلحات موضوعية: General medicine, internal medicine and other clinical medicine, Candidiasis-ectodermal dystrophy, Thymic epithelial-cells, Syndrome type-i, Chronic mucocutaneous candidiasis, Polyendocrine syndrome type-1, Promiscuous gene-expression, Autoimmune regulator aire, Phd finger, T-cells, Autoantibodies

وصف الملف: application/pdf

Relation: The authors would like to thank Kai Krohn for introducing all authors to the secrets of autoimmune research and for inspiring collaboration over the years. The authors wish to acknowledge Riina Richardson, Manchester University National Health Service Foundation Trust, Wythenshawe Hospital (Manchester, United Kingdom); the Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health, University of Manchester, United Kingdom, for providing the clinical patient photographs; and Akileia Krohn and Veera Koivu for drawing the artwork. The paper was supported by the Estonian Research Agency grant PRG377 (PP and KK), Helsinki University Hospital Research Funds grant TYH2020235 (AR and NK), and the Academy of Finland research grant 309433 (AR). The authors would like to thank Kai Krohn for introducing all authors to the secrets of autoimmune research and for inspiring collaboration over the years. The authors wish to acknowledge Riina Richardson, Manchester University National Health Service Foundation Trust, Wythenshawe Hospital (Manchester, United Kingdom); the Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health, University of Manchester, United Kingdom, for providing the clinical patient photographs; and Akileia Krohn and Veera Koivu for drawing the artwork. The paper was supported by the Estonian Research Agency grant PRG377 (PP and KK), Helsinki University Hospital Research Funds grant TYH2020235 (AR and NK), and the Academy of Finland research grant 309433 (AR). Conceptualization: PP, KK, NK, AR; Data Curation: PP, KK, NK, AR; Formal Analysis: PP, KK, NK, AR; Funding Acquisition: PP, KK, AR; Investigation: PP, KK, NK, AR; Methodology: PP, KK, NK, AR; Project Administration: PP, KK, NK, AR; Resources: PP, KK, NK, AR; Supervision: PP, KK, NK, AR; Validation: PP, KK, NK, AR; Visualization: PP, KK, NK, AR; Writing - Original Draft Preparation: PP, KK, NK, AR; Writing - Review and Editing: PP, KK, NK, AR; Peterson , P , Kisand , K , Kluger , N & Ranki , A 2022 , ' Loss of AIRE-Mediated Immune Tolerance and the Skin ' , Journal of Investigative Dermatology , vol. 142 , no. 3 PT B , pp. 760-767 . https://doi.org/10.1016/j.jid.2021.04.022; http://hdl.handle.net/10138/569823; 937b267b-21d9-4746-90c5-f61fdab9ec59; 85115154017; 000758029000004

الاتاحة: http://hdl.handle.net/10138/569823

المؤلفون: Bauyelal Mahto, Payel Kundu, Aniruddha Ghosh, Sandipan Dhar

المصدر: Indian Journal of Paediatric Dermatology, Vol 19, Iss 3, Pp 241-244 (2018)

مصطلحات موضوعية: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, Candida, chronic mucocutaneous candidiasis, hyper IgE syndrome, immunologic deficiency syndromes, Job's syndrome, Dermatology, RL1-803, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.ijpd.in/article.asp?issn=2319-7250;year=2018;volume=19;issue=3;spage=241;epage=244;aulast=Mahto; https://doaj.org/toc/2319-7250

URL الوصول: https://doaj.org/article/0c25cf7facab45608e67a9690696661d

المؤلفون: Amaya-Uribe L., Rojas M., Azizi G., Anaya, Juan-Manuel, Gershwin M.E.

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Cytotoxic T lymphocyte antigen 4, Interleukin 2 receptor alpha, STAT protein, Allergy, Ataxia telangiectasia, Autoimmune disease, Autoimmune lymphoproliferative syndrome, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, Autoimmunity, Chronic granulomatous disease, Common variable immunodeficiency, Complement deficiency, Digeorge syndrome, Disease predisposition, Endocrine system, Gastrointestinal tract, Gene rearrangement, Genetic disorder, Human, Hyper ige syndrome, Hyper igm syndrome, Immune deficiency, Immunological tolerance, Molecular mimicry, Omenn syndrome, Pathophysiology, Phagocytosis, Polyendocrinopathy, Prevalence, Priority journal

وصف الملف: application/pdf

Relation: https://repository.urosario.edu.co/handle/10336/22264; https://doi.org/10.1016/j.jaut.2019.01.011

الاتاحة: https://repository.urosario.edu.co/handle/10336/22264
https://doi.org/10.1016/j.jaut.2019.01.011

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: Elise M. N. Ferré, Alexandra F. Freeman, Jean Ulrick, Eugenia Quiros-Roldan, Amanda Urban, Jessica Durkee-Shock, Monica M. Schmitt, Jenna R.E. Bergerson, Christine Lafeer, Justina Pfister, Deborah Draper, Tom DiMaggio, Luigi D. Notarangelo, Marita Bosticardo, Luisa Imberti, Michael D. Keller, David H. McDermott, Michail S. Lionakis, Dimana Dimitrova, Emily Ricotta, Jeffrey I. Cohen, Steven M. Holland, V. Koneti Rao, Ottavia M. Delmonte, Peter D. Burbelo, Kerry Dobbs, Meng Truong, Dawn Shaw

المصدر: The Journal of Allergy and Clinical Immunology

مصطلحات موضوعية: Male, Secondary, inborn errors of immunity, T-Lymphocytes, Anti-S, Anti-spike, Antibodies, Viral, Cohort Studies, Immunogenicity, Vaccine, Immunology and Allergy, Viral, APECED, Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, Polyendocrinopathies, Autoimmune, B-Lymphocytes, biology, immunomodulators, Brief Report, Immunogenicity, Age Factors, Antibody titer, Middle Aged, Spike Glycoprotein, Vaccination, Seroconversion, Spike Glycoprotein, Coronavirus, Female, Rituximab, Antibody, Immunosuppressive Agents, medicine.drug, Adult, COVID-19 Vaccines, LU, Light unit, Adolescent, Immunology, Immunization, Secondary, Antibodies, HCW, Health care worker, Young Adult, Immunity, medicine, Coronavirus Nucleocapsid Proteins, Humans, Lymphocyte Count, Adverse effect, adverse events, antibody response, COVID-19, immune suppressants, JAK inhibitors, SARS-CoV-2, Aged, Antibody Formation, Immunoglobulin G, Phosphoproteins, anti-N, Anti-nucleocapsid, business.industry, COVID-19 Drug Treatment, Coronavirus, Polyendocrinopathies, IEI, Inborn error of immunity, biology.protein, Immunization, business, Vaccine, GM, Geometric mean, Autoimmune

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3744ae2b22ec6a92d02c40d11283a646
https://doi.org/10.1016/j.jaci.2021.08.016

المؤلفون: Azizi G., Yazdani R., Rae W., Abolhassani H., Rojas M., Aghamohammadi A., Anaya, Juan-Manuel

المصدر: instname:Universidad del Rosario

مصطلحات موضوعية: Interleukin 2 receptor alpha, Stat protein, Transcription factor, Transcription factor bch2, Ubiquitin protein ligase e3, Unclassified drug, Signal transducing adaptor protein, Activated phosphoinositide 3 kinase delta syndrome, Autoimmune disease, Autoimmune lymphoproliferative syndrome, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, Autoimmune polyglandular syndrome, Cytotoxic t lymphocyte antigen 4 deficiency, Gene mutation, Haploinsufficiency, Human, Immune deficiency, Ipex syndrome, Itchy e3 ubiquitin protein ligase deficiency, Jak-stat signaling, Lps responsive beige like anchor protein deficiency, Monogenic disorder, Nonhuman, Omenn syndrome, Pathogenesis, Phenotype, Polyautoimmunity, Primary immunodeficiency disease, Protein expression, Protein kinase c delta deficiency

وصف الملف: application/pdf

Relation: https://repository.urosario.edu.co/handle/10336/23289; https://doi.org/10.1016/j.autrev.2018.05.001

الاتاحة: https://repository.urosario.edu.co/handle/10336/23289
https://doi.org/10.1016/j.autrev.2018.05.001