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sara sebnem KILIC
sara sebnem KILIC
Otros nombressara şebnem kılıc gultekin, sebnem kılıç, şebnem kilic s
Çocuk Allerji ve İmmunoloji Profesörü, Çocuk romatoloji ProfesörüUludağ Üniversitesi Tıp Fakültesi
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Clinical variation of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) in a series of 68 patients
P Ahonen, S Myllärniemi, I Sipilä, J Perheentupa
New England Journal of Medicine 322 (26), 1829-1836, 1990
12631990
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
L Liu, S Okada, XF Kong, AY Kreins, S Cypowyj, A Abhyankar, J Toubiana, ...
Journal of Experimental Medicine 208 (8), 1635-1648, 2011
8782011
Primary B cell immunodeficiencies: comparisons and contrasts
ME Conley, AK Dobbs, DM Farmer, S Kilic, K Paris, S Grigoriadou, ...
Annual review of immunology 27, 199-227, 2009
4962009
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
J Toubiana, S Okada, J Hiller, M Oleastro, M Lagos Gomez, ...
Blood, The Journal of the American Society of Hematology 127 (25), 3154-3164, 2016
4902016
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: a cohort study
E Elkaim, B Neven, J Bruneau, K Mitsui-Sekinaka, A Stanislas, L Heurtier, ...
Journal of Allergy and Clinical Immunology 138 (1), 210-218. e9, 2016
4272016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071-1076, 2016
3452016
Functional STAT3 deficiency compromises the generation of human T follicular helper cells
CS Ma, DT Avery, A Chan, M Batten, J Bustamante, S Boisson-Dupuis, ...
Blood, The Journal of the American Society of Hematology 119 (17), 3997-4008, 2012
3432012
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
3422008
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
AY Kreins, MJ Ciancanelli, S Okada, XF Kong, N Ramírez-Alejo, SS Kilic, ...
Journal of Experimental Medicine 212 (10), 1641-1662, 2015
3382015
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
C Woellner, EM Gertz, AA Schäffer, M Lagos, M Perro, EO Glocker, ...
Journal of Allergy and Clinical Immunology 125 (2), 424-432. e8, 2010
3352010
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
2912015
BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.
J Allergy Clin Immunol. 133 (4), 1134-41, 2014
2732014
Central control of fever and female body temperature by RANKL/RANK
R Hanada, A Leibbrandt, T Hanada, S Kitaoka, T Furuyashiki, H Fujihara, ...
Nature 462 (7272), 505-509, 2009
2662009
Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
S Boisson‐Dupuis, J Bustamante, J El‐Baghdadi, Y Camcioglu, ...
Immunological reviews 264 (1), 103-120, 2015
2362015
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
2122013
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation
A Rotthier, J Baets, ED Vriendt, A Jacobs, M Auer-Grumbach, N Levy, ...
Brain 132 (10), 2699-2711, 2009
2042009
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
CS Ma, N Wong, G Rao, DT Avery, J Torpy, T Hambridge, J Bustamante, ...
Journal of Allergy and Clinical Immunology 136 (4), 993-1006. e1, 2015
1962015
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
1952015
A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets
R Pasvolsky, SW Feigelson, SS Kilic, AJ Simon, G Tal-Lapidot, ...
The Journal of experimental medicine 204 (7), 1571-1582, 2007
1752007
The European internet-based patient and research database for primary immunodeficiencies: update 2011
ESID Registry Working Party Gathmann B benjamin. gathmann@ uniklinik ...
Clinical & Experimental Immunology 167 (3), 479-491, 2012
1682012
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