Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2) P Revy, T Muto, Y Levy, F Geissmann, A Plebani, O Sanal, N Catalan, ... Cell 102 (5), 565-575, 2000 | 1961 | 2000 |
Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency D Moshous, I Callebaut, R De Chasseval, B Corneo, M Cavazzana-Calvo, ... Cell 105 (2), 177-186, 2001 | 1098 | 2001 |
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation X Zhang, D Bogunovic, B Payelle-Brogard, V Francois-Newton, SD Speer, ... Nature 517 (7532), 89-93, 2015 | 526 | 2015 |
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1) G Ménasché, CH Ho, O Sanal, J Feldmann, I Tezcan, F Ersoy, ... The Journal of clinical investigation 112 (3), 450-456, 2003 | 385 | 2003 |
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations MM Guerrini, C Sobacchi, B Cassani, M Abinun, SS Kilic, A Pangrazio, ... The American journal of human genetics 83 (1), 64-76, 2008 | 342 | 2008 |
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency P Quartier, J Bustamante, O Sanal, A Plebani, M Debré, A Deville, ... Clinical immunology 110 (1), 22-29, 2004 | 308 | 2004 |
DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136 patients SE Aydin, SS Kilic, C Aytekin, A Kumar, O Porras, L Kainulainen, ... Journal of clinical immunology 35, 189-198, 2015 | 295 | 2015 |
A DNA-PKcs mutation in a radiosensitive T–B– SCID patient inhibits Artemis activation and nonhomologous end-joining M Van Der Burg, H IJspeert, NS Verkaik, T Turul, WW Wiegant, ... The Journal of clinical investigation 119 (1), 91-98, 2009 | 293 | 2009 |
The mutational spectrum of human malignant autosomal recessive osteopetrosis C Sobacchi, A Frattini, P Orchard, O Porras, I Tezcan, M Andolina, ... Human molecular genetics 10 (17), 1767-1773, 2001 | 269 | 2001 |
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency MP Cicalese, F Ferrua, L Castagnaro, R Pajno, F Barzaghi, S Giannelli, ... Blood, The Journal of the American Society of Hematology 128 (1), 45-54, 2016 | 240 | 2016 |
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients MY Köker, Y Camcıoğlu, K Van Leeuwen, SŞ Kılıç, I Barlan, M Yılmaz, ... Journal of allergy and clinical immunology 132 (5), 1156-1163. e5, 2013 | 214 | 2013 |
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency KR Engelhardt, ME Gertz, S Keles, AA Schäffer, EC Sigmund, C Glocker, ... Journal of Allergy and Clinical Immunology 136 (2), 402-412, 2015 | 195 | 2015 |
ISG15 deficiency and increased viral resistance in humans but not mice SD Speer, Z Li, S Buta, B Payelle-Brogard, L Qian, F Vigant, E Rubino, ... Nature communications 7 (1), 11496, 2016 | 182 | 2016 |
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics E Salzer, D Cagdas, M Hons, EM Mace, W Garncarz, ÖY Petronczki, ... Nature immunology 17 (12), 1352-1360, 2016 | 133 | 2016 |
Life-threatening neurological complications after bone marrow transplantation in children D Uckan, M Cetin, I Yigitkanli, I Tezcan, M Tuncer, D Karasimav, KK Oguz, ... Bone marrow transplantation 35 (1), 71-76, 2005 | 131 | 2005 |
Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases SŞ Kiliç, İ Tezcan, Ö Sanal, A Metin, F Ersoy Pediatrics International 42 (6), 647-650, 2000 | 131 | 2000 |
Two genes are responsible for Griscelli syndrome at the same 15q21 locus E Pastural, F Ersoy, N Yalman, N Wulffraat, E Grillo, F Ozkinay, I Tezcan, ... Genomics 63 (3), 299-306, 2000 | 131 | 2000 |
Clinical features of candidiasis in patients with inherited interleukin 12 receptor β1 deficiency M Ouederni, O Sanal, A Ikincioğullari, I Tezcan, F Dogu, I Sologuren, ... Clinical Infectious Diseases 58 (2), 204-213, 2014 | 122 | 2014 |
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency T Turul, I Tezcan, H Artac, S de Bruin-Versteeg, BH Barendregt, I Reisli, ... European journal of pediatrics 168, 87-93, 2009 | 119 | 2009 |
Additional diverse findings expand the clinical presentation of DOCK8 deficiency O Sanal, H Jing, T Ozgur, D Ayvaz, DM Strauss-Albee, S Ersoy-Evans, ... Journal of clinical immunology 32, 698-708, 2012 | 110 | 2012 |