A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency

Por Santos-Valente, Elisangela, Reisli, Ismail, Artaç, Hasibe, Ott, Raphael, Sanal, Özden, Boztug, Kaan
Publicado em 2012

CVID Associated with Systemic Amyloidosis

Por Esenboga, Saliha, Çagdas Ayvaz, Deniz, Saglam Ayhan, Arzu, Peynircioglu, Banu, Sanal, Ozden, Tezcan, Ilhan
Publicado no Case Reports Immunol (2015)

Identification of ITK deficiency as a novel genetic cause of idiopathic CD4(+) T-cell lymphopenia

Por Serwas, Nina Kathrin, Cagdas, Deniz, Ban, Sol A., Bienemann, Kirsten, Salzer, Elisabeth, Tezcan, İlhan, Borkhardt, Arndt, Sanal, Ozden, Boztug, Kaan
Publicado em 2014

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

Por Erman, Baran, Bilic, Ivan, Hirschmugl, Tatjana, Salzer, Elisabeth, Çagdas, Deniz, Esenboga, Saliha, Akcoren, Zuhal, Sanal, Ozden, Tezcan, Ilhan, Boztug, Kaan
Publicado no Haematologica (2015)

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Por Ménasché, Gaël, Ho, Chen Hsuan, Sanal, Ozden, Feldmann, Jérôme, Tezcan, Ilhan, Ersoy, Fügen, Houdusse, Anne, Fischer, Alain, Basile, Geneviève de Saint
Publicado em 2003

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Por Ménasché, Gaël, Hsuan Ho, Chen, Sanal, Ozden, Feldmann, Jérôme, Tezcan, Ilhan, Ersoy, Fügen, Houdusse, Anne, Fischer, Alain, de Saint Basile, Geneviève
Publicado em 2005

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Por Altiok, Ender, Aksoy, Figen, Perk, Yıldız, Taylan, Fulya, Kim, Peter W., Ilıkkan, Barbaros, Asal, Gülten Turkkani, Goldbach-Mansky, Raphaela, Sanal, Ozden
Publicado em 2012

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

Por Péron, Sophie, Pan-Hammarström, Qiang, Imai, Kohsuke, Du, Likun, Taubenheim, Nadine, Sanal, Ozden, Marodi, Laszlo, Bergelin-Besançon, Anne, Benkerrou, Malika, de Villartay, Jean-Pierre, Fischer, Alain, Revy, Patrick, Durandy, Anne
Publicado em 2007

Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination

Por Imai, Kohsuke, Catalan, Nadia, Plebani, Alessandro, Maródi, László, Sanal, Özden, Kumaki, Satoru, Nagendran, Vasantha, Wood, Philip, Glastre, Catherine, Sarrot-Reynauld, Françoise, Hermine, Olivier, Forveille, Monique, Revy, Patrick, Fischer, Alain, Durandy, Anne
Publicado em 2003

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Por Yee, Christina S., Massaad, Michel J., Bainter, Wayne, Ohsumi, Toshiro K., Föger, Niko, Chan, Andrew C., Akarsu, Nurten A., Aytekin, Caner, Ayvaz, Deniz Çagdas, Tezcan, Ilhan, Sanal, Özden, Geha, Raif S., Chou, Janet
Publicado no J Allergy Clin Immunol (2015)

Additional diverse findings expand the clinical presentation of DOCK8 deficiency

Por Sanal, Ozden, Jing, Huie, Ozgur, Tuba, Ayvaz, Deniz, Strauss-Albee, Dara M., Ersoy-Evans, Sibel, Tezcan, Ilhan, Turkkani, Gulten, Matthews, Helen F., Haliloglu, Goknur, Yuce, Aysel, Yalcin, Bilgehan, Gokoz, Ozay, Oguz, Kader K., Su, Helen C.
Publicado em 2012

Residual Type 1 Immunity in Patients Genetically Deficient for Interleukin 12 Receptor β1 (IL-12Rβ1): Evidence for an IL-12Rβ1–Independent Pathway of IL-12 Responsiveness in Human...

Por Verhagen, Claudia E., de Boer, Tjitske, Smits, Hermelijn H., Verreck, Frank A.W., Wierenga, Eddy A., Kurimoto, M., Lammas, D. Anthony, Kumararatne, Dinakanthe S., Sanal, Ozden, Kroon, Frank P., van Dissel, Jaap T., Sinigaglia, Francesco, Ottenhoff, Tom H.M.
Publicado em 2000

Accounting for genetic heterogeneity in homozygosity mapping: Application to Mendelian susceptibility to mycobacterial disease

Por Grant, Audrey V., Boisson-Dupuis, Stéphanie, Herquelot, Eléonore, de Beaucoudrey, Ludovic, Filipe-Santos, Orchidée, Nolan, Daniel K., Feinberg, Jacqueline, Boland, Anne, Sanal, Ozden, Camcioglu, Yildiz, Palanduz, Ayse, Kilic, Sara Sebnem, Bustamante, Jacinta, Casanova, Jean-Laurent, Abel, Laurent
Publicado em 2011

Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression

Por Muñoz-Ruiz, Miguel, Pérez-Flores, Verónica, Garcillán, Beatriz, Guardo, Alberto C, Mazariegos, Marina S, Takada, Hidetoshi, Allende, Luis M, Kilic, Sara S, Sanal, Ozden, Roifman, Chaim M, López-Granados, Eduardo, Recio, María J, Martínez-Naves, Eduardo, Fernández-Malavé, Edgar, Regueiro, José R
Publicado em 2013

Hematologically important mutations: Leukocyte Adhesion Deficiency (first update)

Por van de Vijver, Edith, Maddalena, Anne, Sanal, Özden, Holland, Steven M., Uzel, Gulbu, Madkaikar, Manisha, de Boer, Martin, van Leeuwen, Karin, Köker, M. Yavuz, Parvaneh, Nima, Fischer, Alain, Law, S.K. Alex, Klein, Nigel, Tezcan, F. Ilhan, Unal, Ekrem, Patiroglu, Turkan, Belohradsky, Bernd, Schwartz, Klaus, Somech, Raz, Kuijpers, Taco W., Roos, Dirk
Publicado no Blood Cells Mol Dis (2011)

ISG15 deficiency and increased viral resistance in humans but not mice

Por Speer, Scott D., Li, Zhi, Buta, Sofija, Payelle-Brogard, Béatrice, Qian, Li, Vigant, Frederic, Rubino, Erminia, Gardner, Thomas J., Wedeking, Tim, Hermann, Mark, Duehr, James, Sanal, Ozden, Tezcan, Ilhan, Mansouri, Nahal, Tabarsi, Payam, Mansouri, Davood, Francois-Newton, Véronique, Daussy, Coralie F., Rodriguez, Marisela R., Lenschow, Deborah J., Freiberg, Alexander N., Tortorella, Domenico, Piehler, Jacob, Lee, Benhur, García-Sastre, Adolfo, Pellegrini, Sandra, Bogunovic, Dusan
Publicado no Nat Commun (2016)

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

Por van de Vosse, Esther, Haverkamp, Margje H., Ramirez-Alejo, Noe, Martinez-Gallo, Mónica, Blancas-Galicia, Lizbeth, Metin, Ayşe, Garty, Ben Zion, Sun-Tan, Çağman, Broides, Arnon, de Paus, Roelof A., Keskin, Özlem, Çağdaş, Deniz, Tezcan, Ilhan, Lopez-Ruzafa, Encarna, Aróstegui, Juan I., Levy, Jacov, Espinosa-Rosales, Francisco J., Sanal, Özden, Santos-Argumedo, Leopoldo, Casanova, Jean-Laurent, Boisson-Dupuis, Stephanie, van Dissel, Jaap T., Bustamante, Jacinta
Publicado em 2013

Localization of an Ataxia-Telangiectasia Gene to an −500-kb Interval on Chromosome 11q23.1: Linkage Analysis of 176 Families by an International Consortium

Por Lange, Ethan, Borresen, Anna-Lise, Chen, Xiaoguang, Chessa, Luciana, Chiplunkar, Sujata, Concannon, Patrick, Dandekar, Sugandha, Gerken, Steven, Lange, Kenneth, Liang, Teresa, McConville, Carmel, Polakow, Jeff, Porras, Oscar, Rotman, Galit, Sanal, Ozden, Sheikhavandi, Sepideh, Shiloh, Yosef, Sobel, Eric, Taylor, Malcolm, Telatar, Milhan, Teraoka, Sharon, Tolun, Aslihan, Udar, Nitin, Uhrhammer, Nancy, Vanagaite, Lina, Wang, Zhijun, Wapelhorst, Beth, Wright, Jocyndra, Yang, Huan-Ming, Yang, Lan, Ziv, Yael, Gatti, Richard A.
Publicado em 1995

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

Por Bogunovic, Dusan, Byun, Minji, Durfee, Larissa A., Abhyankar, Avinash, Sanal, Ozden, Mansouri, Davood, Salem, Sandra, Radovanovic, Irena, Grant, Audrey V., Adimi, Parisa, Mansouri, Nahal, Okada, Satoshi, Bryant, Vanessa L., Kong, Xiao-Fei, Kreins, Alexandra, Velez, Marcela Moncada, Boisson, Bertrand, Khalilzadeh, Soheila, Ozcelik, Ugur, Darazam, Ilad Alavi, Schoggins, John W., Rice, Charles M., Al-Muhsen, Saleh, Behr, Marcel, Vogt, Guillaume, Puel, Anne, Bustamante, Jacinta, Gros, Philippe, Huibregtse, Jon M., Abel, Laurent, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent
Publicado em 2012

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Por Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, El-Baghdadi, Jamila, Camcioglu, Yildiz, Parvaneh, Nima, Azbaoui, Safaa El, Agader, Aomar, Hassani, Amal, Hafidi, Naima El, Mrani, Nidal Alaoui, Jouhadi, Zineb, Ailal, Fatima, Najib, Jilali, Reisli, Ismail, Zamani, Adil, Yosunkaya, Sebnem, Gulle-Girit, Saniye, Yildiran, Alisan, Cipe, Funda Erol, Torun, Selda Hancerli, Metin, Ayse, Atikan, Basak Yildiz, Hatipoglu, Nevin, Aydogmus, Cigdem, Kilic, Sara Sebnem, Dogu, Figen, Karaca, Neslihan, Aksu, Guzide, Kutukculer, Necil, Keser-Emiroglu, Melike, Somer, Ayper, Tanir, Gonul, Aytekin, Caner, Adimi, Parisa, Mahdaviani, Seyed Alireza, Mamishi, Setareh, Bousfiha, Aziz, Sanal, Ozden, Mansouri, Davood, Casanova, Jean-Laurent, Abel, Laurent
Publicado no Immunol Rev (2015)