Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Desa Lilic"'
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0145888 (2016)
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency disorder characterised by susceptibility to chronic Candida and fungal dermatophyte infections of the skin, nails and mucous membranes. Molecular epidemiology studies of CMC infect
Externí odkaz:
https://doaj.org/article/64f4b55245af4a6bb142c5e1ab70532b
Autor:
Sanne P Smeekens, Theo S Plantinga, Frank L van de Veerdonk, Bas Heinhuis, Alexander Hoischen, Leo A B Joosten, Peter D Arkwright, Andrew Gennery, Bart Jan Kullberg, Joris A Veltman, Desa Lilic, Jos W M van der Meer, Mihai G Netea
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e29248 (2011)
We recently reported the genetic cause of autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) as a mutation in the STAT1 gene. In the present study we show that STAT1 Arg274Trp mutations in the coiled-coil (CC) domain is the genetic cause o
Externí odkaz:
https://doaj.org/article/b0055083eef94cb782b734cc171798d8
Autor:
Peter Lunt, Mary Buchta, Laura Gámez-Díaz, Roya Sherkat, Pere Soler-Palacín, Desa Lilic, Christoph Klein, Turkan Patiroglu, Fulya Bektas Kut, Natalie Frede, Sara Sebnem Kilic, Katrin Hübscher, T. Prescott Atkinson, Jessica Rojas-Restrepo, Zahra Chavoshzadeh, Zineb Jouhadi, Ekrem Unal, Ömür Ardenyz, Moudjahed Saleh Al-Ddafari, Bodo Grimbacher, Niten Makwana, Fatih Celmeli, Nermeen Galal, Horst von Bernuth, Mehdi Adeli, Rainer Doffinger, Ilija Kirovski, Anne-Sophie Korganow, Margo L. Whiteford, Ayşe Akman Karakaş, Michele Proietti, Shiva Saghafi, V. Wahn, Andrés Caballero Garcia de Oteyza, Helen Rees, Robin Kobbe, Tuba Turul Özgür, Ana Berta Sousa, Juan Carlos Aldave-Becerra, Ayse Metin, Suranjith L. Seneviratne
Publikováno v:
Journal of Clinical Immunology
Hyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::254537c26d9bb02ee348c67f73dcaeb4
https://avesis.erciyes.edu.tr/publication/details/c6046c8d-ff93-4b70-862c-47a8222980b9/oai
https://avesis.erciyes.edu.tr/publication/details/c6046c8d-ff93-4b70-862c-47a8222980b9/oai
Autor:
Desa Lilic, Tariq Al Shehri, Maria Elena Maccari, Mark Buddles, Timothy Ronan Leahy, Huda Al Dhanhani, Kai Kisand
Publikováno v:
Journal of Clinical Immunology. 38:635-637
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a20a6418328fd27916becba8c2fde60
https://doi.org/10.1007/s10875-018-0536-5
https://doi.org/10.1007/s10875-018-0536-5
Autor:
Kimberley Gilmour, T Mohanadas, Andrew J. Cant, AD Rowan, Mary Slatter, S Loughlin, Al, Shehri, T, Shahnaz Bibi, Angela Grainger, Desa Lilic, F Gothe, Timothy Ronan Leahy, Sophie Hambleton
Publikováno v:
Journal of clinical immunology. 39(8)
Mutations in the coiled-coil and DNA-binding domains of STAT1 lead to delayed STAT1 dephosphorylation and subsequently gain-of-function. The associated clinical phenotype is broad and can include chronic mucocutaneous candidiasis (CMC) and/or combine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7816ab08296d16eb8df347ccdc993b5
https://pubmed.ncbi.nlm.nih.gov/31512162
https://pubmed.ncbi.nlm.nih.gov/31512162
Autor:
Vojtech Thon, Bénédicte Neven, Frank L. van de Veerdonk, Anna Villa, Mario Abinun, Jean Donadieu, Christoph Klein, Hans D. Ochs, Despina Moshous, Geneviève de Saint Basile, Klaus Warnatz, Alain Fischer, Sofia Grigoriadou, Nizar Mahlaoui, Raphael Scheible, Dominique Stoppa-Lyonnet, Nicolette Moes, Shen-Yin Zhang, Reinhard Seger, Isabelle Meyts, Sarah Beaussant Cohen, Andrew J. Cant, Bodo Grimbacher, Markus G. Seidel, Frédéric Rieux-Laucat, Michael H. Albert, Lukas M. Gasteiger, Stephan Ehl, David Edgar, Joris M. van Montfrans, Ania Manson, Maria Kanariou, Richard Gatti, Capucine Picard, Teresa Espanol, Beata Wolska, Amos Etzioni, Anne Durandy, Stephan Rusch, Jacinta Bustamante, Gerhard Kindle, Esther de Vries, Andrew R. Gennery, Annarosa Soresina, Benjamin Gathmann, Helen Chapel, Isabella Quinti, Steven M. Holland, Helen J. Lachmann, Adrian J. Thrasher, Inderjeet Dokal, Ellen D. Renner, Gritta Janka, Natalia Martinez, Bobby Gaspar, Desa Lilic, Matthew Buckland, Jean-Laurent Casanova, Corry M.R. Weemaes
Publikováno v:
The Journal of Allergy and Clinical Immunology. In Practice, 7(6), 1763-1770. Elsevier
Journal of Allergy and Clinical Immunology. In Practice, 7, 1763-1770
Journal of Allergy and Clinical Immunology: In Practice, 7(6), 1763. Elsevier
Journal of Allergy and Clinical Immunology. In Practice, 7, 6, pp. 1763-1770
Journal of Allergy and Clinical Immunology. In Practice, 7, 1763-1770
Journal of Allergy and Clinical Immunology: In Practice, 7(6), 1763. Elsevier
Journal of Allergy and Clinical Immunology. In Practice, 7, 6, pp. 1763-1770
Item does not contain fulltext Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for epidemiological and clinical research and to assess the feasibility of clinical trials. The E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70466cd03f2576a9c2a054c6a955faf
https://research.tilburguniversity.edu/en/publications/117b1dbb-c5a6-45b4-b69f-962fb05c06f7
https://research.tilburguniversity.edu/en/publications/117b1dbb-c5a6-45b4-b69f-962fb05c06f7
Autor:
Tim Cheetham, Simon H. S. Pearce, Catharien M. U. Hilkens, Katherine L. Crossland, Peter D. Arkwright, Desa Lilic, Mario Abinun
Publikováno v:
Autoimmunity. 49:211-218
Loss-of-function mutations of the Autoimmune Regulator (AIRE) gene results in organ-specific autoimmunity and disease Autoimmune Polyendocrinopathy type 1 (APS1)/Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). The AIRE protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc93121bf65278fcd12b5aff9c5aa550
https://doi.org/10.3109/08916934.2016.1148692
https://doi.org/10.3109/08916934.2016.1148692
Publikováno v:
Clinical and Experimental Immunology. 182:1-34
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d28cf92efc31579debb33d00edd1e9be
https://doi.org/10.1111/cei.12741
https://doi.org/10.1111/cei.12741
Autor:
Edith Schussler, Alexandra F. Freeman, Johana Castro-Wagner, Eric J. Allenspach, R. Paul Guillerman, Troy R. Torgerson, Christa S. Zerbe, Niraj C. Patel, Andrew R. Gennery, Jennifer W. Leiding, Joshua D. Milner, Charlotte Cunningham-Rundles, Olive S. Eckstein, Yesim Y. Demirdag, Lisa R. Forbes, Tiphanie P. Vogel, Desa Lilic, Mario Abinun, Peter Olbrich, Steven M. Holland, Mary Slatter, Ashley Plant, Helen C. Su, Katja G. Weinacht, Paul Szabolcs, Megan A. Cooper
Publikováno v:
The Journal of allergy and clinical immunology. 142(5)
Treatment of the autoimmune and immune-dysregulatory features of patients with STAT1 GOF or STAT3 GOF disease remains challenging. Jakinibs have been used to treat the severe immune-dysregulation in patients with either STAT1 GOF or STAT3 GOF mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfddd1dcbdeed9f9441db50ee2f57f1e
https://pubmed.ncbi.nlm.nih.gov/30092289
https://pubmed.ncbi.nlm.nih.gov/30092289
Publikováno v:
British Journal of Dermatology. 172:e17-e25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c63792f5974739ed522a5176df54e15
https://doi.org/10.1111/bjd.13680
https://doi.org/10.1111/bjd.13680