• Allergic Rhinitis And Its Impact On Asthma (Aria): Achievements In 10 Years And Future Needs 

      Bousquet, J.; Schuenemann, H. J.; Samolinski, B.; Demoly, P.; Baena-Cagnani, C. E.; Bachert, C.; Bonini, S.; Boulet, L. P.; Bousquet, P. J.; Brozek, J. L.; Canonica, G. W.; Casale, T. B.; Cruz, A. A.; Fokkens, W. J.; Fonseca, J. A.; van Wijk, R. Gerth; Grouse, L.; Haahtela, T.; Khaltaev, N.; Kuna, P.; Lockey, R. F.; Carlsen, K. C. Lodrup; Mullol, J.; Naclerio, R.; O'Hehir, R. E.; Ohta, K.; Palkonen, S.; Papadopoulos, N. G.; Passalacqua, G.; Pawankar, R.; Price, D.; Ryan, D.; Simons, F. E. R.; Togias, A.; Williams, D.; Yorgancioglu, A.; Yusuf, O. M.; Aberer, W.; Adachi, M.; Agache, I.; Ait-Khaled, N.; Akdis, C. A.; Andrianarisoa, A.; Annesi-Maesano, I.; Ansotegui, I. J.; Baiardini, I.; Bateman, E. D.; Bedbrook, A.; Beghe, B.; Beji, M.; Bel, E. H.; Ben Kheder, A.; Bennoor, K. S.; Bergmann, K. C.; Berrissoul, F.; Bieber, T.; Jensen, C. Bindslev; Blaiss, M. S.; Boner, A. L.; Bouchard, J.; Braido, F.; Brightling, C. E.; Bush, A.; Caballero, F.; Calderon, M. A.; Calvo, M. A.; Camargos, P. A. M.; Caraballo, L. R.; Carlsen, K. H.; Carr, W.; Cepeda, A. M.; Cesario, A.; Chavannes, N. H.; Chen, Y. Z.; Chiriac, A. M.; Chivato Perez, T.; Chkhartishvili, E.; Ciprandi, G.; Costa, D. J.; Cox, L.; Custovic, A.; Dahl, R.; Darsow, U.; De Blay, F.; Deleanu, D.; Denburg, J. A.; Devillier, P.; Didi, T.; Dokic, D.; Dolen, W. K.; Douagui, H.; Dubakiene, R.; Durham, S. R.; Dykewicz, M. S.; El-Gamal, Y.; El-Meziane, A.; Emuzyte, R.; Fiocchi, A.; Fletcher, M.; Fukuda, T.; Gamkrelidze, A.; Gereda, J. E.; Gonzalez Diaz, S.; Gotua, M.; Guzman, M. A.; Hellings, P. W.; Hellquist-Dahl, B.; Horak, F.; Hourihane, J. O'B.; Howarth, P.; Humbert, M.; Ivancevich, J. C.; Jackson, C.; Just, J.; Kalayci, O.; Kaliner, M. A.; Kalyoncu, A. F.; Keil, T.; Keith, P. K.; Khayat, G.; Kim, Y. Y.; N'Goran, B. Koffi; Koppelman, G. H.; Kowalski, M. L.; Kull, I.; Kvedariene, V.; Larenas-Linnemann, D.; Le, L. T.; Lemiere, C.; Li, J.; Lieberman, P.; Lipworth, B.; Mahboub, B.; Makela, M. J.; Martin, F.; Marshall, G. D.; Martinez, F. D.; Masjedi, M. R.; Maurer, M.; Mavale-Manuel, S.; Mazon, A.; Melen, E.; Meltzer, E. O.; Mendez, N. H.; Merk, H.; Mihaltan, F.; Mohammad, Y.; Morais-Almeida, M.; Muraro, A.; Nafti, S.; Namazova-Baranova, L.; Nekam, K.; Neou, A.; Niggemann, B.; Nizankowska-Mogilnicka, E.; Nyembue, T. D.; Okamoto, Y.; Okubo, K.; Orru, M. P.; Ouedraogo, S.; Ozdemir, C.; Panzner, P.; Pali-Schoell, I.; Park, H. S.; Pigearias, B.; Pohl, W.; Popov, T. A.; Postma, D. S.; Potter, P.; Rabe, K. F.; Ratomaharo, J.; Reitamo, S.; Ring, J.; Roberts, R.; Rogala, B.; Romano, A.; Rodriguez, M. Roman; Rosado-Pinto, J.; Rosenwasser, L.; Rottem, M.; Sanchez-Borges, M.; Scadding, G. K.; Schmid-Grendelmeier, P.; Sheikh, A.; Sisul, J. C.; Sole, D.; Sooronbaev, T.; Spicak, V.; Spranger, O.; Stein, R. T.; Stoloff, S. W.; Sunyer, J.; Szczeklik, A.; Todo-Bom, A.; Toskala, E.; Tremblay, Y.; Valenta, R.; Valero, A. L.; Valeyre, D.; Valiulis, A.; Valovirta, E.; Van Cauwenberge, P.; Vandenplas, O.; van weel, C.; Vichyanond, P.; Viegi, G.; Wang, D. Y.; Wickman, M.; Woehrl, S.; Wright, J.; Yawn, B. P.; Yiallouros, P. K.; Zar, H. J.; Zernotti, M. E.; Zhong, N.; Zidarn, M.; Zuberbier, T. (Mosby-Elsevier, 2012)
      Allergic rhinitis (AR) and asthma represent global health problems for all age groups. Asthma and rhinitis frequently coexist in the same subjects. Allergic Rhinitis and its Impact on Asthma (ARIA) was initiated during a ...
    • Efficacy Of Lentivirus-Mediated Gene Therapy In An Omenn Syndrome Recombination-Activating Gene 2 Mouse Model Is Not Hindered By Inflammation And Immune Dysregulation 

      Capo, Valentina; Castiello, Maria Carmina; Fontana, Elena; Penna, Sara; Bosticardo, Marita; Draghici, Elena; Poliani, Luigi P.; Sergi, Lucia Sergi; Rigoni, Rosita; Cassani, Barbara; Zanussi, Monica; Carrera, Paola; Uva, Paolo; Dobbs, Kerry; Sacchetti, Nicole; Notarangelo, Luigi D.; van Til, Niek P.; Wagemaker, Gerard; Villa, Anna (Mosby-Elsevier, 2018)
      Background: Omenn syndrome (OS) is a rare severe combined immunodeficiency associated with autoimmunity and caused by defects in lymphoid-specific V(D)J recombination. Most patients carry hypomorphic mutations in ...
    • Functional Analysis Of Naturally Occurring Dclre1C Mutations And Correlation With The Clinical Phenotype Of Artemis Deficiency 

      Felgentreff, Kerstin; Lee, Yu Nee; Frugoni, Francesco; Du, Likun; van der Burg, Mirjam; Giliani, Silvia; Tezcan, Ilhan; Reisli, Ismail; Mejstrikova, Ester; de Villartay, Jean-Pierre; Sleckman, Barry P.; Manis, John; Notarangelo, Luigi D. (Mosby-Elsevier, 2015)
      Background: The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin opening during the V(D)J recombination process and repair of ...
    • Mutations In Stat3 And Diagnostic Guidelines For Hyper-Ige Syndrome 

      Woellner, Cristina; Gertz, E. Michael; Schaeffer, Alejandro A.; Lagos, Macarena; Perro, Mario; Glocker, Erik-Oliver; Pietrogrande, Maria C.; Cossu, Fausto; Franco, Josee L.; Matamoros, Nuria; Pietrucha, Barbara; Heropolitanska-Pliszka, Edyta; Yeganeh, Mehdi; Moin, Mostafa; Espanol, Teresa; Ehl, Stephan; Gennery, Andrew R.; Abinun, Mario; Breborowicz, Anna; Niehues, Tim; Kilic, Sara Sebnem; Junker, Anne; Turvey, Stuart E.; Plebani, Alessandro; Sanchez, Berta; Garty, Ben-Zion; Pignata, Claudio; Cancrini, Caterina; Litzman, Jiri; Sanal, Oezden; Baumann, Ulrich; Bacchetta, Rosa; Hsu, Amy P.; Davis, Joie N.; Hammarstroem, Lennart; Davies, E. Graham; Eren, Efrem; Arkwright, Peter D.; Moilanen, Jukka S.; Viemann, Dorothee; Khan, Sujoy; Laszlo Marodi; Cant, Andrew J.; Freeman, Alexandra F.; Puck, Jennifer M.; Holland, Steven M.; Grimbacher, Bodo (Mosby-Elsevier, 2010)
      Background: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated ...
    • Recurrent Viral Infections Associated with a Homozygous Coro1A Mutation That Disrupts Oligomerization and Cytoskeletal Association 

      Yee, Christina S.; Massaad, Michel J.; Bainter, Wayne; Ohsumi, Toshiro K.; Foeger, Niko; Chan, Andrew C.; Akarsu, Nurten A.; Aytekin, Caner; Ayvaz, Deniz Cagdas; Tezcan, Ilhan; Sanal, Ozden; Geha, Raif S.; Chou, Janet (Mosby-Elsevier, 2016)
      Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ...
    • The Extended Clinical Phenotype of 64 Patients with Dedicator of Cytokinesis 8 Deficiency 

      Engelhardt, Karin R.; Gertz, Michael E.; Keles, Sevgi; Schaeffer, Alejandro A.; Sigmund, Elena C.; Glocker, Cristina; Saghafi, Shiva; Pourpak, Zahra; Ceja, Ruben; Sassi, Atfa; Graham, Laura E.; Massaad, Michel J.; Mellouli, Fethi; Ben-Mustapha, Imen; Khemiri, Monia; Kilic, Sara Sebnem; Etzioni, Amos; Freeman, Alexandra F.; Thiel, Jens; Schulze, Ilka; Al-Herz, Waleed; Metin, Ayse; Sanal, Ozden; Tezcan, Ilhan; Yeganeh, Mehdi; Niehues, Tim; Dueckers, Gregor; Weinspach, Sebastian; Patiroglu, Turkan; Unal, Ekrem; Dasouki, Majed; Yilmaz, Mustafa; Genel, Ferah; Aytekin, Caner; Kutukculer, Necil; Somer, Ayper; Kilic, Mehmet; Reisli, Ismail; Camcioglu, Yildiz; Gennery, Andrew R.; Cant, Andrew J.; Jones, Alison; Gaspar, Bobby H.; Arkwright, Peter D.; Pietrogrande, Maria C.; Baz, Zeina; Al-Tamemi, Salem; Lougaris, Vassilios; Lefranc, Gerard; Megarbane, Andre; Boutros, Jeannette; Galal, Nermeen; Bejaoui, Mohamed; Barbouche, Mohamed-Ridha; Geha, Raif S.; Chatila, Talal A.; Grimbacher, Bodo (Mosby-Elsevier, 2015)
      Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical ...
    • Type I Ifn-Related Netosis In Ataxia Telangiectasia And Artemis Deficiency 

      Gul, Ersin; Sayar, Esra Hazar; Gungor, Bilgi; Eroglu, Fehime Kara; Surucu, Naz; Keles, Sevgi; Guner, Sukru Nail; Findik, Siddika; Alpdundar, Esin; Ayanoglu, Ihsan Cihan; Kayaoglu, Basak; Geckin, Busra Nur; Sanli, Hatice Asena; Kahraman, Tamer; Yakicier, Cengiz; Muftuoglu, Meltem; Oguz, Berna; Ayvaz, Deniz Nazire Cagdas; Gursel, Ihsan; Ozen, Seza; Reisli, Ismail; Gursel, Mayda (Mosby-Elsevier, 2018)
      Background: Pathological inflammatory syndromes of unknown etiology are commonly observed in ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory manifestations also exist in patients with STING-associated ...