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Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Montfrans, Joris van; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D.; Rosenzweig, Sergio; Grimbacher, Bodo; Veerdonk, Frank L. van de; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D.; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne; Cypowyj, Sophie; Thumerelle, Caroline; Toulon, Antoine; Bustamante, Jacinta; Tahuil, Natalia; Salhi, Aicha; Boiu, Sorina; Chopra, Charu; Di Giovanni, Daniela; Bezrodnik, Liliana; Boutros, Jeannette; Thomas, Caroline; Lacuesta, Gina; Jannier, Sarah; Korganow, Anne-Sophie; Paillard, Catherine; Boutboul, David; Bue, Melanie; Marie-Cardine, Aude; Bayart, Sophie; Migaud, Melanie; Weiss, Laurence; Karmochkine, Marina; Garcia-Martinez, Juan-Miguel; Stephan, Jean-Louis; Bensaid, Philippe; Jaennoel, Guy-Patrick; Witte, Torsten; Baumann, Ulrich; Harrer, Thomas; Navarrete, Carmen; Benjamin, Antony Terance; Firinu, Davide; Pignata, Claudio; Picco, Paolo; Mendoza, David; Reyes, Saul Oswaldo Lugo; Lozano, Carlos Torres; Ortega-Cisneros, Margarita; Cortina, Mariana; Mesdaghi, Mehrnaz; Nabavi, Mohammad; Espanol, Teresa; Martinez-Saavedra, Maia Teresa; Rezaei, Nima; Zoghi, Samaneh; Pac, Malgorzata; Barlogis, Vincent; Revon-Riviere, Gabriel; Haimi-Cohen, Yishai; Spiegel, Ronen; Miron, Dan; Bouchaib, Jabir; Blancas-Galicia, Lizbeth; Toth, Beata; Drexel, Barbara; Rohrlich, Pierre Simon; Lesens, Olivier; Hoernes, Miriam; Drewe, Elizabeth; Abinum, Mario; Sawalle-Belohradsky, Julie; Kindle, Gerhard; Depner, Mark; Milani, Lili; Nikopensius, Tiit; Remm, Maido; Talas, Ulvi Gerst; Tucker, Mark; Willis, Mary; Leonard, Stephanie; Meuwissen, Hilaire; Ferdman, Ronald M.; Wallace, Mark; Desai, Mukesh M.; Taur, Prasad; Badolato, Raffaele; Soltesz, Beata; Schnopp, Christina; Jansson, Annette F.; Ayvaz, Deniz; Shabashova, Nadejda; Chernyshova, Liudmyla; Bondarenko, Anastasia; Moshous, Despina; Neven, Benedicte; Boubidi, Chahinez; Ailal, Fatima; Giardino, Giuliana; Del Giacco, Stefano; Bougnoux, Marie-Elisabeth; Imai, Kohsuke; Okawa, Teppei; Mizoguchi, Yoko; Ozaki, Yusuke; Takeuchi, Masato; Hayakawa, Akira; Logering, Birgit; Reich, Kristian; Buhl, Timo; Eyerich, Kilian; Schaller, Martin; Arkwright, Peter D.; Gennery, Andrew R.; Cant, Andrew J.; Warris, Adilia; Henriet, Stefanie; Mekki, Najla; Barbouche, Ridha; Ben Mustapha, Imen; Bodemer, Christine; Polak, Michel; Grimprel, Emmanuel; Burgel, Pierre-Regis; Fischer, Alain; Hermine, Olivier; Debre, Marianne; Kocacyk, Dilara; Dhalla, Fatima; Patel, Smita Y.; Moens, Leen; Haerynck, Filomeen; Dullaers, Melissa; Hoste, Levi; Sanal, Ozden; Kilic, Sara Sebnem; Roesler, Joachim; Lanternier, Fanny; Lortholary, Olivier; Fieschi, Claire; Church, Joseph A.; Roifman, Chaim; Yuenyongviwat, Araya; Peterson, Part; Boisson-Dupuis, Stephanie; Abel, Laurent; Marciano, Beatriz E.; Netea, Mihai G. (2016): Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. In: Blood, Vol. 127, No. 25: pp. 3154-3164
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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.

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