dc.contributor.author | van de Veerdonk, Frank L. | |
dc.contributor.author | Kisand, Kai | |
dc.contributor.author | Reichenbach, Janine | |
dc.contributor.author | Renner, Ellen D. | |
dc.contributor.author | Rosenzweig, Sergio | |
dc.contributor.author | Grimbacher, Bodo | |
dc.contributor.author | Traidl-Hoffmann, Claudia | |
dc.contributor.author | Picard, Capucine | |
dc.contributor.author | Marodi, Laszlo | |
dc.contributor.author | Morio, Tomohiro | |
dc.contributor.author | Kobayashi, Masao | |
dc.contributor.author | Lilic, Desa | |
dc.contributor.author | Milner, Joshua D. | |
dc.contributor.author | Holland, Steven | |
dc.contributor.author | Casanova, Jean-Laurent | |
dc.contributor.author | Puel, Anne | |
dc.contributor.author | Cypowyj, Sophie | |
dc.contributor.author | Thumerelle, Caroline | |
dc.contributor.author | Toulon, Antoine | |
dc.contributor.author | Bustamante, Jacinta | |
dc.contributor.author | Tahuil, Natalia | |
dc.contributor.author | Salhi, Aicha | |
dc.contributor.author | Boiu, Sorina | |
dc.contributor.author | Chopra, Charu | |
dc.contributor.author | Di Giovanni, Daniela | |
dc.contributor.author | Bezrodnik, Liliana | |
dc.contributor.author | Boutros, Jeannette | |
dc.contributor.author | Thomas, Caroline | |
dc.contributor.author | Lacuesta, Gina | |
dc.contributor.author | Jannier, Sarah | |
dc.contributor.author | Camcioglu, Yildiz | |
dc.contributor.author | Bue, Melanie | |
dc.contributor.author | Marie-Cardine, Aude | |
dc.contributor.author | Bayart, Sophie | |
dc.contributor.author | Migaud, Melanie | |
dc.contributor.author | Weiss, Laurence | |
dc.contributor.author | Karmochkine, Marina | |
dc.contributor.author | Garcia-Martinez, Juan-Miguel | |
dc.contributor.author | Stephan, Jean-Louis | |
dc.contributor.author | Bensaid, Philippe | |
dc.contributor.author | Jaennoel, Guy-Patrick | |
dc.contributor.author | Witte, Torsten | |
dc.contributor.author | Baumann, Ulrich | |
dc.contributor.author | Harrer, Thomas | |
dc.contributor.author | Navarrete, Carmen | |
dc.contributor.author | Benjamin, Antony Terance | |
dc.contributor.author | Firinu, Davide | |
dc.contributor.author | Pignata, Claudio | |
dc.contributor.author | Picco, Paolo | |
dc.contributor.author | Mendoza, David | |
dc.contributor.author | Reyes, Saul Oswaldo Lugo | |
dc.contributor.author | Lozano, Carlos Torres | |
dc.contributor.author | Ortega-Cisneros, Margarita | |
dc.contributor.author | Cortina, Mariana | |
dc.contributor.author | Mesdaghi, Mehrnaz | |
dc.contributor.author | Nabavi, Mohammad | |
dc.contributor.author | Espanol, Teresa | |
dc.contributor.author | Martinez-Saavedra, Maia Teresa | |
dc.contributor.author | Rezaei, Nima | |
dc.contributor.author | Zoghi, Samaneh | |
dc.contributor.author | Pac, Malgorzata | |
dc.contributor.author | Barlogis, Vincent | |
dc.contributor.author | Revon-Riviere, Gabriel | |
dc.contributor.author | Haimi-Cohen, Yishai | |
dc.contributor.author | Spiegel, Ronen | |
dc.contributor.author | Miron, Dan | |
dc.contributor.author | Bouchaib, Jabir | |
dc.contributor.author | Blancas-Galicia, Lizbeth | |
dc.contributor.author | Toth, Beata | |
dc.contributor.author | Drexel, Barbara | |
dc.contributor.author | Rohrlich, Pierre Simon | |
dc.contributor.author | Lesens, Olivier | |
dc.contributor.author | Hoernes, Miriam | |
dc.contributor.author | Drewe, Elizabeth | |
dc.contributor.author | Abinum, Mario | |
dc.contributor.author | Sawalle-Belohradsky, Julie | |
dc.contributor.author | Kindle, Gerhard | |
dc.contributor.author | Depner, Mark | |
dc.contributor.author | Milani, Lili | |
dc.contributor.author | Nikopensius, Tiit | |
dc.contributor.author | Remm, Maido | |
dc.contributor.author | Talas, Ulvi Gerst | |
dc.contributor.author | Tucker, Mark | |
dc.contributor.author | Willis, Mary | |
dc.contributor.author | Leonard, Stephanie | |
dc.contributor.author | Meuwissen, Hilaire | |
dc.contributor.author | Ferdman, Ronald M. | |
dc.contributor.author | Wallace, Mark | |
dc.contributor.author | Desai, Mukesh M. | |
dc.contributor.author | Taur, Prasad | |
dc.contributor.author | Badolato, Raffaele | |
dc.contributor.author | Soltesz, Beata | |
dc.contributor.author | Schnopp, Christina | |
dc.contributor.author | Jansson, Annette F. | |
dc.contributor.author | Ayvaz, Deniz | |
dc.contributor.author | Shabashova, Nadejda | |
dc.contributor.author | Chernyshova, Liudmyla | |
dc.contributor.author | Bondarenko, Anastasia | |
dc.contributor.author | Moshous, Despina | |
dc.contributor.author | Neven, Benedicte | |
dc.contributor.author | Boubidi, Chahinez | |
dc.contributor.author | Ailal, Fatima | |
dc.contributor.author | Giardino, Giuliana | |
dc.contributor.author | Del Giacco, Stefano | |
dc.contributor.author | Bougnoux, Marie-Elisabeth | |
dc.contributor.author | Imai, Kohsuke | |
dc.contributor.author | Okawa, Teppei | |
dc.contributor.author | Mizoguchi, Yoko | |
dc.contributor.author | Ozaki, Yusuke | |
dc.contributor.author | Takeuchi, Masato | |
dc.contributor.author | Hayakawa, Akira | |
dc.contributor.author | Logering, Birgit | |
dc.contributor.author | Reich, Kristian | |
dc.contributor.author | Buhl, Timo | |
dc.contributor.author | Eyerich, Kilian | |
dc.contributor.author | Schaller, Martin | |
dc.contributor.author | Arkwright, Peter D. | |
dc.contributor.author | Gennery, Andrew R. | |
dc.contributor.author | Cant, Andrew J. | |
dc.contributor.author | Warris, Adilia | |
dc.contributor.author | Henriet, Stefanie | |
dc.contributor.author | Mekki, Najla | |
dc.contributor.author | Barbouche, Ridha | |
dc.contributor.author | Ben Mustapha, Imen | |
dc.contributor.author | Bodemer, Christine | |
dc.contributor.author | Polak, Michel | |
dc.contributor.author | Grimprel, Emmanuel | |
dc.contributor.author | Burgel, Pierre-Regis | |
dc.contributor.author | Fischer, Alain | |
dc.contributor.author | Hermine, Olivier | |
dc.contributor.author | Debre, Marianne | |
dc.contributor.author | Kocacyk, Dilara | |
dc.contributor.author | Dhalla, Fatima | |
dc.contributor.author | Patel, Smita Y. | |
dc.contributor.author | Moens, Leen | |
dc.contributor.author | Haerynck, Filomeen | |
dc.contributor.author | Dullaers, Melissa | |
dc.contributor.author | Hoste, Levi | |
dc.contributor.author | Sanal, Ozden | |
dc.contributor.author | Kilic, Sara Sebnem | |
dc.contributor.author | Roesler, Joachim | |
dc.contributor.author | Lanternier, Fanny | |
dc.contributor.author | Lortholary, Olivier | |
dc.contributor.author | Fieschi, Claire | |
dc.contributor.author | Church, Joseph A. | |
dc.contributor.author | Roifman, Chaim | |
dc.contributor.author | Yuenyongviwat, Araya | |
dc.contributor.author | Peterson, Part | |
dc.contributor.author | Boisson-Dupuis, Stephanie | |
dc.contributor.author | Abel, Laurent | |
dc.contributor.author | Marciano, Beatriz E. | |
dc.contributor.author | Netea, Mihai G. | |
dc.contributor.author | Korganow, Anne-Sophie | |
dc.contributor.author | Paillard, Catherine | |
dc.contributor.author | Boutboul, David | |
dc.contributor.author | Toubiana, Julie | |
dc.contributor.author | Okada, Satoshi | |
dc.contributor.author | Hiller, Julia | |
dc.contributor.author | Oleastro, Matias | |
dc.contributor.author | Lagos Gomez, Macarena | |
dc.contributor.author | Aldave Becerra, Juan Carlos | |
dc.contributor.author | Ouachee-Chardin, Marie | |
dc.contributor.author | Fouyssac, Fanny | |
dc.contributor.author | Girisha, Katta Mohan | |
dc.contributor.author | Etzioni, Amos | |
dc.contributor.author | Van Montfrans, Joris | |
dc.contributor.author | Kerns, Leigh Ann | |
dc.contributor.author | Belohradsky, Bernd | |
dc.contributor.author | Blanche, Stephane | |
dc.contributor.author | Bousfiha, Aziz | |
dc.contributor.author | Rodriguez-Gallego, Carlos | |
dc.contributor.author | Meyts, Isabelle | |
dc.date.accessioned | 2021-03-03T15:09:17Z | |
dc.date.available | 2021-03-03T15:09:17Z | |
dc.date.issued | 2016 | |
dc.identifier.citation | Toubiana J., Okada S., Hiller J., Oleastro M., Lagos Gomez M., Aldave Becerra J. C. , Ouachee-Chardin M., Fouyssac F., Girisha K. M. , Etzioni A., et al., "Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype", BLOOD, cilt.127, sa.25, ss.3154-3164, 2016 | |
dc.identifier.issn | 0006-4971 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_3d788109-4c95-4f59-b50f-cf99058961ce | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/45209 | |
dc.identifier.uri | https://doi.org/10.1182/blood-2015-11-679902 | |
dc.description.abstract | Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years). Patients often displayed bacterial (74%) infections, mostly because of Staphylococcus aureus (36%), including the respiratory tract and the skin in 47% and 28% of patients, respectively, and viral (38%) infections, mostly because of Herpesviridae (83%) and affecting the skin in 32% of patients. Invasive fungal infections (10%), mostly caused by Candida spp. (29%), and mycobacterial disease (6%) caused by Mycobacterium tuberculosis, environmental mycobacteria, or Bacille Calmette-Guerin vaccines were less common. Many patients had autoimmune manifestations (37%), including hypothyroidism(22%), type 1 diabetes (4%), blood cytopenia (4%), and systemic lupus erythematosus (2%). Invasive infections (25%), cerebral aneurysms(6%), and cancers (6%) were the strongest predictors of poor outcome. CMC persisted in 39% of the 202 patients receiving prolonged antifungal treatment. Circulating interleukin-17A-producing T-cell count was low for most (82%) but not all of the patients tested. STAT1 GOF mutations underlie AD CMC, as well as an unexpectedly wide range of other clinical features, including not only a variety of infectious and autoimmune diseases, but also cerebral aneurysms and carcinomas that confer a poor prognosis. | |
dc.language.iso | eng | |
dc.subject | HEMATOLOJİ | |
dc.subject | Hematoloji | |
dc.subject | İç Hastalıkları | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.title | Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype | |
dc.type | Makale | |
dc.relation.journal | BLOOD | |
dc.contributor.department | , , | |
dc.identifier.volume | 127 | |
dc.identifier.issue | 25 | |
dc.identifier.startpage | 3154 | |
dc.identifier.endpage | 3164 | |
dc.contributor.firstauthorID | 233287 | |