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 |
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 |
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 |
IL‐12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database E van de Vosse, MH Haverkamp, N Ramirez‐Alejo, M Martinez‐Gallo, ... Human mutation 34 (10), 1329-1339, 2013 | 105 | 2013 |
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function T Shahin, D Aschenbrenner, D Cagdas, SK Bal, CD Conde, W Garncarz, ... haematologica 104 (3), 609, 2019 | 94 | 2019 |
STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation SO Halacli, DC Ayvaz, C Sun-Tan, B Erman, E Uz, DY Yilmaz, K Ozgul, ... Clinical Immunology 161 (2), 316-323, 2015 | 90 | 2015 |
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child M Ogishi, R Yang, C Aytekin, D Langlais, M Bourgey, T Khan, FA Ali, ... Nature medicine 27 (9), 1646-1654, 2021 | 87 | 2021 |
Investigation of genetic defects in severe combined immunodeficiency patients from Turkey by targeted sequencing B Erman, I Bilic, T Hirschmugl, E Salzer, H Boztug, Ö Sanal, ... Scandinavian journal of immunology 85 (3), 227-234, 2017 | 84 | 2017 |
A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2 S Özen, ED Batu, EZ Taşkıran, HA Özkara, Ş Ünal, N Güleray, A Erden, ... The Journal of rheumatology 47 (1), 117-125, 2020 | 81 | 2020 |
Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia NK Serwas, D Cagdas, SA Ban, K Bienemann, E Salzer, İ Tezcan, ... Blood, The Journal of the American Society of Hematology 124 (4), 655-657, 2014 | 64 | 2014 |
Patients with primary immunodeficiencies are a reservoir of poliovirus and a risk to polio eradication A Aghamohammadi, H Abolhassani, N Kutukculer, SG Wassilak, ... Frontiers in immunology 8, 685, 2017 | 61 | 2017 |
Type I IFN–related NETosis in ataxia telangiectasia and Artemis deficiency E Gul, EH Sayar, B Gungor, FK Eroglu, N Surucu, S Keles, SN Guner, ... Journal of Allergy and Clinical Immunology 142 (1), 246-257, 2018 | 57 | 2018 |
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects D Cagdas, SO Halaçlı, Ç Tan, B Lo, PG Çetinkaya, S Esenboğa, ... Journal of clinical immunology 39, 726-738, 2019 | 56 | 2019 |
Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R B Erman, I Bilic, T Hirschmugl, E Salzer, D Çagdas, S Esenboga, ... Haematologica 100 (6), e216, 2015 | 51 | 2015 |
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association CS Yee, MJ Massaad, W Bainter, TK Ohsumi, N Föger, AC Chan, ... Journal of Allergy and Clinical Immunology 137 (3), 879-888. e2, 2016 | 49 | 2016 |
COVID-19 in patients with primary immunodeficiency S Esenboga, M Ocak, A Akarsu, HN Bildik, D Cagdas, AT Iskit, I Tezcan Journal of clinical immunology 41, 1515-1522, 2021 | 48 | 2021 |
Glucocorticoid-induced diabetic ketoacidosis in acute rheumatic fever DN Çağdaş, FA Paç, E Cakal Journal of cardiovascular pharmacology and therapeutics 13 (4), 298-300, 2008 | 45 | 2008 |
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients D Çağdaş, TT Özgür, GT Asal, İ Tezcan, A Metin, N Lambert, ... European journal of pediatrics 171, 1527-1531, 2012 | 40 | 2012 |
ADA deficiency: evaluation of the clinical and laboratory features and the outcome D Cagdas, P Gur Cetinkaya, B Karaatmaca, S Esenboga, C Tan, T Yılmaz, ... Journal of clinical immunology 38, 484-493, 2018 | 34 | 2018 |
Two SCID cases with Cernunnos‐XLF deficiency successfully treated by hematopoietic stem cell transplantation D Çağdaş, TT Özgür, GT Asal, P Revy, JP De Villartay, M van der Burg, ... Pediatric transplantation 16 (5), E167-E171, 2012 | 32 | 2012 |