Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

Yazar: Sologuren, Ithaisa, Boisson-Dupuis, Stéphanie, Pestano, Jose, Vincent, Quentin Benoit, Fernández-Pérez, Leandro, Chapgier, Ariane, Cárdenes, María, Feinberg, Jacqueline, García-Laorden, M. Isabel, Picard, Capucine, Santiago, Esther, Kong, Xiaofei, Jannière, Lucile, Colino, Elena, Herrera-Ramos, Estefanía, Francés, Adela, Navarrete, Carmen, Blanche, Stéphane, Faria, Emilia, Remiszewski, Paweł, Cordeiro, Ana, Freeman, Alexandra, Holland, Steven, Abarca, Katia, Valerón-Lemaur, Mónica, Gonçalo-Marques, José, Silveira, Luisa, García-Castellano, José Manuel, Caminero, José, Pérez-Arellano, José Luis, Bustamante, Jacinta, Abel, Laurent, Casanova, Jean-Laurent, Rodríguez-Gallego, Carlos
Baskı/Yayın Bilgisi 2011

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Yazar: Bolze, Alexandre, Boisson, Bertrand, Bosch, Barbara, Antipenko, Alexander, Bouaziz, Matthieu, Sackstein, Paul, Chaker-Margot, Malik, Barlogis, Vincent, Briggs, Tracy, Colino, Elena, Elmore, Aurora C., Fischer, Alain, Genel, Ferah, Hewlett, Angela, Jedidi, Maher, Kelecic, Jadranka, Krüger, Renate, Ku, Cheng-Lung, Kumararatne, Dinakantha, Lefevre-Utile, Alain, Loughlin, Sam, Mahlaoui, Nizar, Markus, Susanne, Garcia, Juan-Miguel, Nizon, Mathilde, Oleastro, Matias, Pac, Malgorzata, Picard, Capucine, Pollard, Andrew J., Rodriguez-Gallego, Carlos, Thomas, Caroline, Von Bernuth, Horst, Worth, Austen, Meyts, Isabelle, Risolino, Maurizio, Selleri, Licia, Puel, Anne, Klinge, Sebastian, Abel, Laurent, Casanova, Jean-Laurent
Yayımlandı Proc Natl Acad Sci U S A (2018)

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

Yazar: Ouederni, Monia, Sanal, Ozden, Ikincioğullari, Aydan, Tezcan, Ilhan, Dogu, Figen, Sologuren, Ithaisa, Pedraza-Sánchez, Sigifredo, Keser, Melike, Tanir, Gonul, Nieuwhof, Chris, Colino, Elena, Kumararatne, Dinakantha, Levy, Jacov, Kutukculer, Necil, Aytekin, Caner, Herrera-Ramos, Estefanía, Bhatti, Micah, Karaca, Neslihan, Barbouche, Ridha, Broides, Arnon, Goudouris, Ekaterini, Franco, José Luis, Parvaneh, Nima, Reisli, Ismail, Strickler, Alexis, Shcherbina, Anna, Somer, Ayper, Segal, Anthony, Angel-Moreno, Alfonso, Lezana-Fernandez, José Luis, Bejaoui, Mohamed, Bobadilla-Del Valle, Miriam, Kachboura, Salem, Sentongo, Timothy, Ben-Mustapha, Imen, Bustamante, Jacinta, Picard, Capucine, Puel, Anne, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent, Rodríguez-Gallego, Carlos
Baskı/Yayın Bilgisi 2014

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases

Yazar: Holzinger, Dirk, Fassl, Selina Kathleen, de Jager, Wilco, Lohse, Peter, Röhrig, Ute F., Gattorno, Marco, Omenetti, Alessia, Chiesa, Sabrina, Schena, Francesca, Austermann, Judith, Vogl, Thomas, Kuhns, Douglas B., Holland, Steven M., Rodríguez-Gallego, Carlos, López-Almaraz, Ricardo, Arostegui, Juan I., Colino, Elena, Roldan, Rosa, Fessatou, Smaragdi, Isidor, Bertrand, Poignant, Sylvaine, Ito, Koichi, Epple, Hans-Joerg, Bernstein, Jonathan A., Jeng, Michael, Frankovich, Jennifer, Lionetti, Geraldina, Church, Joseph A., Ong, Peck Y., LaPlant, Mona, Abinun, Mario, Skinner, Rod, Bigley, Venetia, Sachs, Ulrich J., Hinze, Claas, Hoppenreijs, Esther, Ehrchen, Jan, Foell, Dirk, Chae, Jae Jin, Ombrello, Amanda, Aksentijevich, Ivona, Sunderkoetter, Cord, Roth, Johannes
Yayımlandı J Allergy Clin Immunol (2015)

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

Yazar: Picard, Capucine, von Bernuth, Horst, Ghandil, Pegah, Chrabieh, Maya, Levy, Ofer, Arkwright, Peter D., McDonald, Douglas, Geha, Raif S., Takada, Hidetoshi, Krause, Jens C., Creech, C. Buddy, Ku, Cheng-Lung, Ehl, Stephan, Maŕodi, Ĺaszĺo, Al-Muhsen, Saleh, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Day-Good, Noorbibi K., Holland, Steven M., Gallin, John, Chapel, Helen, Speert, David P., Rodriguez-Gallego, Carlos, Colino, Elena, Garty, Ben-Zion, Roifman, Chaim, Hara, Toshiro, Yoshikawa, Hideto, Nonoyama, Shigeaki, Domachowske, Joseph, Issekutz, Andrew C., Tang, Mimi, Smart, Joanne, Zitnik, Simona Eva, Hoarau, Cyrille, Kumararatne, Dinakantha, Thrasher, Adrian, Davies, E. Graham, Bethune, Claire, Sirvent, Nicolas, de Ricaud, Dominique, Camcioglu, Yildiz, Vasconcelos, J́ulia, Guedes, Margarida, Vitor, Artur Bonito, Rodrigo, Carlos, AlmaŸan, Francisco, Ḿendez, Maria, Aŕostegui, Juan Ignacio, Alsina, Laia, Fortuny, Claudia, Reichenbach, Janine, Verbsky, James W, Bossuyt, Xavier, Doffinger, Rainer, Abel, Laurent, Puel, Anne, Casanova, Jean-Laurent
Baskı/Yayın Bilgisi 2010