PMC Articles for MedGen (Select 440830) - PMC

Select item 37036751.

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococci

László Maródi, Sophie Cypowyj, Beáta Tóth, Liudmyla Chernyshova, Anne Puel, Jean-Laurent Casanova

J Allergy Clin Immunol. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: J Allergy Clin Immunol. 2012 Nov; 130(5): 1019–1027. Published online 2012 Oct 3. doi: 10.1016/j.jaci.2012.09.011

PMCID:: PMC3703675

Abstract Article PDF–4.3M

Select item 14756532.

Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1

Anthony Meager, Kumuthini Visvalingam, Pärt Peterson, Kaidi Möll, Astrid Murumägi, Kai Krohn, Petra Eskelin, Jaakko Perheentupa, Eystein Husebye, Yoshihisa Kadota, Nick Willcox

PLoS Med. 2006 Jul; 3(7): e289. Published online 2006 Jun 13. doi: 10.1371/journal.pmed.0030289

PMCID:: PMC1475653

Abstract Article PDF–322K

Select item 14756563.

Anti-Interferon Auto-Antibodies in Autoimmune Polyendocrinopathy Syndrome Type 1

Michael Levin

PLoS Med. 2006 Jul; 3(7): e292. Published online 2006 Jun 13. doi: 10.1371/journal.pmed.0030292

PMCID:: PMC1475656

Article PDF–54K

Select item 29304714.

T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency

Charis E. Teh, Stephen R. Daley, Anselm Enders, Christopher C. Goodnow

Proc Natl Acad Sci U S A. 2010 Aug 17; 107(33): 14709–14714. Published online 2010 Jul 28. doi: 10.1073/pnas.1009209107

PMCID:: PMC2930471

Abstract Article PDF–983K

Select item 29511175.

Monogenic Autoimmune Diseases: Insights into Self-Tolerance

MAUREEN A. SU, MARK S. ANDERSON

Pediatr Res. Author manuscript; available in PMC 2010 Oct 7.

Published in final edited form as: Pediatr Res. 2009 May; 65(5 Pt 2): 20R–25R. doi: 10.1203/PDR.0b013e31819dc55c

PMCID:: PMC2951117

Abstract Article PDF–216K

Select item 30106966.

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

Clin Dev Immunol. 2010; 2010: 586342. Published online 2010 Dec 14. doi: 10.1155/2010/586342

PMCID:: PMC3010696

Abstract Article PDF–7.8M

Select item 30172327.

The role of Aire in clonal selection

Ruth T. Taniguchi, Mark S. Anderson

Immunol Cell Biol. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: Immunol Cell Biol. 2011 Jan; 89(1): 40–44. Published online 2010 Nov 16. doi: 10.1038/icb.2010.132

PMCID:: PMC3017232

Abstract Article PDF–115K

Select item 34855108.

Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance

Roberto Perniola

Clin Dev Immunol. 2012; 2012: 207403. Published online 2012 Oct 22. doi: 10.1155/2012/207403

PMCID:: PMC3485510

Abstract Article PDF–615K

Select item 35408649.

A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing

PLoS One. 2013; 8(1): e53981. Published online 2013 Jan 8. doi: 10.1371/journal.pone.0053981

PMCID:: PMC3540864

Abstract Article PDF–372K

Select item 363281910.

Clinical phenotypes of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy seen in the Northern Ireland paediatric population over the last 30 years.

Sarinda Millar, Dennis Carson

Ulster Med J. 2012 Sep; 81(3): 118–122.

PMCID:: PMC3632819

Abstract Article PDF–1.0M

Select item 1066519611.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Tom Le Voyer, Audrey V. Parent, Xian Liu, Axel Cederholm, Adrian Gervais, Jérémie Rosain, Tina Nguyen, Malena Perez Lorenzo, Elze Rackaityte, Darawan Rinchai, Peng Zhang, Lucy Bizien, Gonca Hancioglu, Pascale Ghillani-Dalbin, Jean-Luc Charuel, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman Maglorius Renkilaraj, Masato Ogishi, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia M. Delmonte, Gabriele Müller, Baerbel Keller, Julio Orrego, William Alexander Franco Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I. Berrios, Linda Vong, Constance H. Katelaris, Peter Mustillo, Johannes Raedler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter, NF-κB Consortium, COVID Human Genetic Effort, Catriona McLean, Aurélien Guffroy, Joseph L. DeRisi, David Yu, Corey Miller, Yi Feng, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B. Rosen, Steve M. Holland, Marita Bosticardo, Heather Kenney, Riccardo Castagnoli, Charlotte A. Slade, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini S. Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, Georgios Sogkas, M. Cecilia Poli, Mary A. Slatter, Boaz Palterer, Michael D. Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Melanie Wong, Alisa Kane, Hannah Hu, Cindy Ma, Hana Grombiříková, Peter Ciznar, Ilan Dalal, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphettes, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C. Goodnow, Paul E. Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D. Rosenzweig, Makoto Miyara, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G. Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa L. Bryant, Sophie Trouillet Assant, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim M. Roifman, Nils Landegren, Luigi D. Notarangelo, Mark S. Anderson, Jean-Laurent Casanova, Anne Puel

Nature. 2023; 623(7988): 803–813. Published online 2023 Nov 8. doi: 10.1038/s41586-023-06717-x

PMCID:: PMC10665196

Abstract Article PDF–13M

Select item 419066712.

Clinical and serologic parallels to APS-I in patients with thymomas, and autoantigen transcripts in their tumors

Anette S. B. Wolff, Jaanika Kärner, Jone F. Owe, Bergithe E.V. Oftedal, Nils Erik Gilhus, Martina M. Erichsen, Olle Kämpe, Anthony Meager, Pärt Peterson, Kai Kisand, Nick Willcox, Eystein S. Husebye

J Immunol. Author manuscript; available in PMC 2015 Apr 15.

Published in final edited form as: J Immunol. 2014 Oct 15; 193(8): 3880–3890. Published online 2014 Sep 17. doi: 10.4049/jimmunol.1401068

PMCID:: PMC4190667

Abstract Article PDF–919K

Select item 497133713.

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

Øyvind Bruserud, Bergithe E. Oftedal, Nils Landegren, Martina M. Erichsen, Eirik Bratland, Kari Lima, Anders P. Jørgensen, Anne G. Myhre, Johan Svartberg, Kristian J. Fougner, Åsne Bakke, Bjørn G. Nedrebø, Bjarne Mella, Lars Breivik, Marte K. Viken, Per M. Knappskog, Mihaela C. Marthinussen, Kristian Løvås, Olle Kämpe, Anette B. Wolff, Eystein S. Husebye

J Clin Endocrinol Metab. 2016 Aug; 101(8): 2975–2983. Published online 2016 Jun 2. doi: 10.1210/jc.2016-1821