Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247 von Marin, Ana V., MSc, Jiménez-Reinoso, Anaïs, MSc, Briones, Alejandro C., MSc, Muñoz-Ruiz, Miguel, MSc, Aydogmus, Cigdem, MD, Pasick, Luke J., BSc, Couso, Jorge, MSc, Mazariegos, Marina S., MSc, Alvarez-Prado, Angel F., MSc, Blázquez-Moreno, Alfonso, MSc, Cipe, Funda E., MD, Haskologlu, Sule, MD, Dogu, Figen, MD, Morín, Matías, PhD, Moreno-Pelayo, Miguel A., PhD, García-Sánchez, Félix, PhD, Gil-Herrera, Juana, MD, PhD, Fernández-Malavé, Edgar, PhD, Reyburn, Hugh T., PhD, Ramiro, Almudena R., PhD, Ikinciogullari, Aydan, MD, Recio, Maria J., PhD, Regueiro, Jose R., PhD, Garcillán, Beatriz, PhD

Volltext

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery von Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G

Volltext

Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247 von Marin, Ana V, Jiménez-Reinoso, Anaïs, Briones, Alejandro C, Muñoz-Ruiz, Miguel, Aydogmus, Cigdem, Pasick, Luke J, Couso, Jorge, Mazariegos, Marina S, Alvarez-Prado, Angel F, Blázquez-Moreno, Alfonso, Cipe, Funda E, Haskologlu, Sule, Dogu, Figen, Morín, Matías, Moreno-Pelayo, Miguel A, García-Sánchez, Félix, Gil-Herrera, Juana, Fernández-Malavé, Edgar, Reyburn, Hugh T, Ramiro, Almudena R, Ikinciogullari, Aydan, Recio, Maria J, Regueiro, Jose R, Garcillán, Beatriz

Volltext

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency von Lévy, Romain, Gothe, Florian, Momenilandi, Mana, Magg, Thomas, Materna, Marie, Peters, Philipp, Raedler, Johannes, Philippot, Quentin, Rack-Hoch, Anita Lena, Langlais, David, Bourgey, Mathieu, Lanz, Anna-Lisa, Ogishi, Masato, Rosain, Jérémie, Martin, Emmanuel, Latour, Sylvain, Vladikine, Natasha, Distefano, Marco, Khan, Taushif, Rapaport, Franck, Schulz, Marian S, Holzer, Ursula, Fasth, Anders, Sogkas, Georgios, Speckmann, Carsten, Troilo, Arianna, Bigley, Venetia, Roppelt, Anna, Dinur-Schejter, Yael, Toker, Ori, Bronken Martinsen, Karen Helene, Sherkat, Roya, Somekh, Ido, Somech, Raz, Shouval, Dror S, Kühl, Jörn-Sven, Ip, Winnie, McDermott, Elizabeth M, Cliffe, Lucy, Ozen, Ahmet, Baris, Safa, Rangarajan, Hemalatha G, Jouanguy, Emmanuelle, Puel, Anne, Bustamante, Jacinta, Alyanakian, Marie-Alexandra, Fusaro, Mathieu, Wang, Yi, Kong, Xiao-Fei, Cobat, Aurélie, Boutboul, David, Castelle, Martin, Aguilar, Claire, Hermine, Olivier, Cheminant, Morgane, Suarez, Felipe, Yildiran, Alisan, Bousfiha, Aziz, Al-Mousa, Hamoud, Alsohime, Fahad, Cagdas, Deniz, Abraham, Roshini S, Knutsen, Alan P, Fevang, Borre, Bhattad, Sagar, Kiykim, Ayca, Erman, Baran, Arikoglu, Tugba, Unal, Ekrem, Kumar, Ashish, Geier, Christoph B, Baumann, Ulrich, Neven, Bénédicte, Rohlfs, Meino, Walz, Christoph, Abel, Laurent, Malissen, Bernard, Marr, Nico, Klein, Christoph, Casanova, Jean-Laurent, Hauck, Fabian, Béziat, Vivien

Volltext

BCG vaccination in patients with severe combined immunodeficiency: Complications, risks, and vaccination policies von Marciano, Beatriz E., MD, Huang, Chiung-Yu, PhD, Joshi, Gyan, PhD, Rezaei, Nima, MD, Carvalho, Beatriz Costa, MD, Allwood, Zoe, MD, Ikinciogullari, Aydan, MD, Reda, Shereen M., MD, Gennery, Andrew, MD, Thon, Vojtech, MD, Espinosa-Rosales, Francisco, MD, Al-Herz, Waleed, MD, Porras, Oscar, MD, Shcherbina, Anna, MD, Szaflarska, Anna, MD, Kiliç, Şebnem, MD, Franco, Jose L., MD, PhD, Gómez Raccio, Andrea C., MD, Roxo, Persio, MD, Esteves, Isabel, MD, Galal, Nermeen, MD, Grumach, Anete Sevciovic, MD, PhD, Al-Tamemi, Salem, MD, Yildiran, Alisan, MD, Orellana, Julio C., MD, Yamada, Masafumi, MD, Morio, Tomohiro, MD, Liberatore, Diana, MD, Ohtsuka, Yoshitoshi, MD, Lau, Yu-Lung, MD, Nishikomori, Ryuta, MD, Torres-Lozano, Carlos, MD, Mazzucchelli, Juliana T.L., MD, Vilela, Maria M.S., MD, Tavares, Fabiola S., MD, Cunha, Luciana, MD, Pinto, Jorge A., MD, Espinosa-Padilla, Sara E., MD, Hernandez-Nieto, Leticia, MD, Elfeky, Reem A., MD, Ariga, Tadashi, MD, Toshio, Heike, MD, Dogu, Figen, MD, Cipe, Funda, MD, Formankova, Renata, MD, Nuñez-Nuñez, M. Enriqueta, MD, Bezrodnik, Liliana, MD, Marques, Jose Gonçalo, MD, Pereira, María I., PhD, Listello, Viviana, MD, Slatter, Mary A., MD, Nademi, Zohreh, MD, Kowalczyk, Danuta, MD, Fleisher, Thomas A., MD, Davies, Graham, MD, Neven, Bénédicte, MD, Rosenzweig, Sergio D., MD, PhD

Volltext

Mutational landscape of severe combined immunodeficiency patients from Turkey von Firtina, Sinem, Yin Ng, Yuk, Hatirnaz Ng, Ozden, Kiykim, Ayca, Aydiner, Elif, Nepesov, Serdar, Camcioglu, Yildiz, Sayar, Esra H., Reisli, Ismail, Torun, Selda H., Cogurlu, Tuba, Uygun, Dilara, Simsek, Isil E., Kaya, Aysenur, Cipe, Funda, Cagdas, Deniz, Yucel, Esra, Cekic, Sukru, Uygun, Vedat, Baris, Safa, Ozen, Ahmet, Ozbek, Ugur, Sayitoglu, Muge

Volltext

Diagnosis of Immediate Hypersensitivity to β-Lactam Antibiotics Can Be Made Safely with Current Approaches von Celik, Gulfem E., Aydin, Ömür, Dogu, Figen, Çipe, Funda, Boyvat, Ayşe, Ikinciogullari, Aydan, Akyol, Aynur, Demirel, Yavuz S.

Volltext

BCG vaccination in SCID patients: complications, risks and vaccination policies von Marciano, Beatriz E, Huang, Chiung-Yu, Joshi, Gyan, Rezaei, Nima, Carvalho, Beatriz Costa, Allwood, Zoe, Ikinciogullari, Aydan, Reda, Shereen M, Gennery, Andrew, Thon, Vojtech, Espinosa-Rosales, Francisco, Al-Herz, Waleed, Porras, Oscar, Shcherbina, Anna, Szaflarska, Anna, Kiliç, Şebnem, Franco, Jose L, Raccio, Andrea C Gómez, Roxo-Jr, Persio, Esteves, Isabel, Galal, Nermeen, Grumach, Anete Sevciovic, Al-Tamemi, Salem, Yildiran, Alisan, Orellana, Julio C, Yamada, Masafumi, Morio, Tomohiro, Liberatore, Diana, Ohtsuka, Yoshitoshi, Lau, Yu-Lung, Nishikomori, Ryuta, Torres-Lozano, Carlos, Mazzucchelli, Juliana TL, Vilela, Maria MS, Tavares, Fabiola S, Cunha, Luciana, Pinto, Jorge A, Espinosa-Padilla, Sara E, Hernandez-Nieto, Leticia, Elfeky, Reem A, Ariga, Tadashi, Toshio, Heike, Dogu, Figen, Cipe, Funda, Formankova, Renata, Nuñez-Nuñez, M Enriqueta, Bezrodnik, Liliana, Marques, Jose Gonçalo, Pereira, María I, Listello, Viviana, Slatter, Mary A, Nademi, Zohreh, Kowalczyk, Danuta, Fleisher, Thomas A., Davies, Graham, Neven, Bénédicte, Rosenzweig, Sergio D

Volltext

An unusual clinical presentation: invasive Candida non-albicans infections in ataxia telangiectasia von Cipe, F, Dogu, F, Yildiran, A, Yüksek, M, Pekacar, T, Güriz, H, Saatci, M, Sezer, E, Düzenli, F, Ikinciogullari, A, Babacan, E

Volltext

Diagnosis of Immediate Hypersensitivity to [beta]-Lactam Antibiotics Can Be Made Safely with Current Approaches von Celik, Gulfem E, Aydin, Ömür, Dogu, Figen, Çipe, Funda, Boyvat, Ayse, Ikinciogullari, Aydan, Akyol, Aynur, Demirel, Yavuz S

Volltext