Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Autor: Bernd H. Belohradsky, Miriam Hoernes, Sophie Cypowyj, Janine Reichenbach, Saleh Al-Muhsen, Magali Audry, Joachim Roesler, Amos Etzioni, Francisco Espinosa Rosales, Matías Oleastro, Luyan Liu, Tatiana Kochetkov, Viktor P. Chernyshov, Olivier Lortholary, Cécile Masson, Julie Toubiana, Stéphane Blanche, Caroline Thumerelle, Reinhard Seger, Dan Engelhard, Beáta Tóth, Yuval Itan, Lizbeth Blancas-Galicia, Patrick Nitschke, Gizi Wildbaum, Ludmyla Chernyshova, Avinash Abhyankar, Jérome Flatot, Ellen D. Renner, Ileana Maria Madrigal Beas, Xiao-Fei Kong, Maya Chrabieh, Antoine Toulon, Capucine Picard, Masao Kobayashi, László Maródi, J. Hiller, Alexandra Y. Kreins, Christine Bodemer, Julie Sawalle-Belohradsky, Alexandre Bolze, Claudia Traidl-Hoffmann, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Anastasia Bondarenko, Alain Fischer, Emmanuelle Jouanguy, Laurent Abel, Theresia Kusuma, Nathan Karin, Rosa María Cortés Grimaldo, Pierre-Régis Burgel, Alessandro Borghesi, Annette Jansson, Anne Puel, Mélanie Bué, Jacinta Bustamante, Kilian Eyerich, Mélanie Migaud, Carlos Torres Lozano, Stefanie Eyerich, Barbara Drexel, Sara Sebnem Kilic, Klaus Magdorf, Satoshi Okada, Vera Gulácsy

Publikováno v: The Journal of Experimental Medicine
J. Exp. Med. 208, 1635-1648 (2011)

Whole-exome sequencing reveals activating STAT1 mutations in some patients with autosomal dominant chronic mucocutaneous candidiasis disease.
Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F defici

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f22afce4bf3f7b792989039cf399f52
http://europepmc.org/articles/PMC3149226

A role for human skin-resident T cells in wound healing

Autor: Kristen R. Taylor, Ross Rudolph, Mayer Tenenhaus, Dhaval Bhavsar, Julie M. Jameson, Lionel Breton, Antoine Toulon, Caroline Lanigan, Wendy L. Havran

Publikováno v: The Journal of Experimental Medicine

Epidermal T cells have been shown to play unique roles in tissue homeostasis and repair in mice through local secretion of distinct growth factors in the skin. Human epidermis contains both alphabeta(+) and gammadelta(+) T cells whose functional capa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::987a3837f4d6a2a66dcdf107cc9ee76f
https://pubmed.ncbi.nlm.nih.gov/19307328

Targeted skin overexpression of the mineralocorticoid receptor in mice causes epidermal atrophy, premature skin barrier formation, eye abnormalities, and alopecia

Autor: Jean Marie Gasc, Aïcha Cherfa, Antoine Toulon, Nicolette Farman, Maggy Grossin, Maud Clemessy, Vincent Descamps, Frederic Jaisser, Ralf Paus, Eve Maubec, Yannis Sainte Marie, Michel Peuchmaur, Adam B. Glick

Publikováno v: The American journal of pathology. 171(3)

The mineralocorticoid receptor (MR) is a transcription factor of the nuclear receptor family, activation of which by aldosterone enhances salt reabsorption in the kidney. The MR is also expressed in nonclassical aldosterone target cells (brain, heart

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1663f46eaea11d6847acf1d768094c1
https://pubmed.ncbi.nlm.nih.gov/17675581

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity (114.16)

Autor: Anne Puel, Sophie Cypowyj, Jacinta Bustamante, Jill Wright, Luyan Liu, Hye Kyung Lim, Mélanie Migaud, Laura Israel, Maya Chrabieh, Magali Audry, Matthew Gumbleton, Antoine Toulon, Christine Bodemer, Jamila El-Baghdadi, Matthew Whitters, Theresa Paradis, Jonathan Brooks, Mary Collins, Neil Wolfman, Saleh Al-Muhsen, Miguel Galicchio, Laurent Abel, Capucine Picard, Jean-Laurent Casanova

Publikováno v: The Journal of Immunology. 186:114.16-114.16

Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, oral and genital mucosae caused by Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a5829418053a21486140df5d0999437
https://doi.org/10.4049/jimmunol.186.supp.114.16