Publications by authors named "Sara Sebnem Kilic"

44Publications

Three different faces of TACI mutations.

Scand J Immunol 2020 06 7;91(6):e12879. Epub 2020 Apr 7.

Division of Pediatric Allergy and Clinical Immunology, Uludag University Faculty of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/sji.12879DOI Listing
June 2020

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study.

Pediatr Allergy Immunol 2020 Jul 9;31(5):528-536. Epub 2020 Mar 9.

Division of Pediatric Allergy and Clinical Immunology, Uludag University Faculty of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pai.13231DOI Listing
July 2020

Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings.

Acta Radiol 2020 Oct 30;61(10):1377-1387. Epub 2020 Jan 30.

Department of Radiology, Uludag University, School of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0284185120901510DOI Listing
October 2020

Cancer Tendency in a Patient with ZNF341 Deficiency.

J Clin Immunol 2020 04 24;40(3):534-538. Epub 2020 Jan 24.

Division of Pediatric Immunology, Uludag University Faculty of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-020-00756-zDOI Listing
April 2020

Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient?

Turk J Pediatr 2019 ;61(6):937-940

Divisions of Pediatric Immunology, Uludağ University Faculty of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2019.06.016DOI Listing
August 2020

Ocular Involvement in Muckle-Wells Syndrome.

Ocul Immunol Inflamm 2020 17;28(1):70-78. Epub 2018 Dec 17.

Pediatric Allergy and Clinical Immunology, Uludag University School of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/09273948.2018.1
Publisher Site
http://dx.doi.org/10.1080/09273948.2018.1552305DOI Listing
December 2018

APECED in Turkey: A case report and insights on genetic and phenotypic variability.

Clin Immunol 2018 09 3;194:60-66. Epub 2018 Jul 3.

Endocrine Unit, Department of Medicine (DIMED), University of Padua, Via Ospedale Civile 105, 35128 Padua, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2018.06.012DOI Listing
September 2018

Retrospective view of primary Raynaud's phenomenon in childhood.

Reumatol Clin 2019 Nov - Dec;15(6):e92-e95. Epub 2018 Feb 6.

Uludag University Medical Faculty, Department of Pediatric Immunology-Rheumatology, Gorukle, 16059 Bursa, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.reuma.2017.12.012DOI Listing
May 2020

Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis episodes in Mediterranean fever gene variants?

Pediatr Int 2017 Jun 24;59(6):655-660. Epub 2017 Apr 24.

Departments of Pediatric Immunology-Rheumatology, Uludag University Faculty of Medicine, Görükle, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ped.13265
Publisher Site
http://dx.doi.org/10.1111/ped.13265DOI Listing
June 2017

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Haematologica 2016 10 9;101(10):1180-1189. Epub 2016 Sep 9.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Barts NHS Trust, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3324/haematol.2016.147769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046647PMC
October 2016

Massive ascites in a canakinumab resistant case with MVA leading to bone marrow transplantation.

Rheumatol Int 2016 Jul 10;36(7):1011-3. Epub 2016 Mar 10.

Division of Immunology, Department of Pediatrics, Uludag University Faculty of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00296-016-3456-9DOI Listing
July 2016

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Orf Infection in a Patient with Stat1 Gain-of-Function.

J Clin Immunol 2015 Jan 4;35(1):80-3. Epub 2014 Nov 4.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris Descartes University, Imagine Institute, Paris, EU, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-014-0111-7DOI Listing
January 2015

High-content cytometry and transcriptomic biomarker profiling of human B-cell activation.

J Allergy Clin Immunol 2014 Jan 5;133(1):172-80.e1-10. Epub 2013 Sep 5.

Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2013.06.047DOI Listing
January 2014

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

J Allergy Clin Immunol 2013 Nov 31;132(5):1156-1163.e5. Epub 2013 Jul 31.

Immunology Department and GenKök Laboratory of Immunology, Faculty of Medicine, University of Erciyes, Kayseri, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2013.05.039DOI Listing
November 2013

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.

J Infect 2012 Dec 15;65(6):568-72. Epub 2012 Aug 15.

Pediatric Immunology Division, Department of Pediatrics, Uludag University Medical Faculty, Gorukle-Bursa 16059, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jinf.2012.08.008DOI Listing
December 2012

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

J Exp Med 2011 Aug 4;208(8):1635-48. Epub 2011 Jul 4.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale U980 and University Paris Descartes, 75015 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20110958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149226PMC
August 2011

Leukocytoclastic vasculitis in patients with severe congenital neutropenia.

J Trop Pediatr 2010 Oct 25;56(5):359-62. Epub 2010 Jan 25.

Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/tropej/fmp140DOI Listing
October 2010

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

Neurogenetics 2009 Apr 17;10(2):161-5. Epub 2008 Dec 17.

Department of Pediatric Immunology, Uludağ University School of Medicine, Gorukle, Bursa, 16059, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-008-0165-xDOI Listing
April 2009

Case 1: A small girl with a bird-like face.

Acta Paediatr 2006 Nov;95(11):1505-8

Department of Paediatrics, Uludag University School of Medicine, Gorukle-Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/08035250600731981DOI Listing
November 2006

Interferon-alpha treatment of molluscum contagiosum in a patient with hyperimmunoglobulin E syndrome.

Pediatrics 2006 Jun 1;117(6):e1253-1255. Epub 2006 May 1.

Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2005-2706DOI Listing
June 2006

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.

Pediatr Surg Int 2006 Apr 4;22(4):380-3. Epub 2006 Feb 4.

Department of Medical Genetics, Medical Faculty, Uludağ University, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s00383-006-1641
Web Search
http://link.springer.com/10.1007/s00383-006-1641-8
Publisher Site
http://dx.doi.org/10.1007/s00383-006-1641-8DOI Listing
April 2006

Vitamin a deficiency in patients with common variable immunodeficiency.

J Clin Immunol 2005 May;25(3):275-80

Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-005-4090-6DOI Listing
May 2005

Anti-tumour necrosis factor-alpha treatment of juvenile idiopathic arthritis in a patient with common variable immunodeficiency.

J Trop Pediatr 2005 Jun 26;51(3):194-5. Epub 2005 Apr 26.

Uludag University Medical Faculty, Department of Pediatrics, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/tropej/fmi027DOI Listing
June 2005