Research Topics
| S Sebnem KilicSummaryAffiliation: Uludag University Country: Turkey Publications
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Detail Information
Publications
The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers studySara S Kilic
Department of Pediatric Immunology, Uludag University School of Medicine, Gorukle, Bursa, Turkey, 16059
J Clin Immunol 33:74-83. 2013..This study aimed to provide a minimum estimate of the prevalence of each disorder and to determine the clinical characteristics and outcomes of patients with PID in Turkey...
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndromeSara S Kilic
Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
J Pediatr 160:1055-7. 2012..Tyrosine kinase 2 deficiency should be considered in patients susceptible to herpes viruses and intramacrophage pathogens even in the absence of atopy, high serum IgE, and staphylococcal disease...
Transfusion-associated graft-versus-host disease in severe combined immunodeficiencyS Sebnem Kilic
Department of Pediatric Immunology, Uludag University, School of Medicine, Bursa, Turkey
J Investig Allergol Clin Immunol 20:153-6. 2010..TA-GVHD must be considered in the differential diagnosis of patients who present fever, pancytopenia, diarrhea, skin rash and icterus, and the transfusion history must be questioned...- Leukocytoclastic vasculitis in patients with severe congenital neutropeniaSara Sebnem Kilic
Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey
J Trop Pediatr 56:359-62. 2010..We present two cases of severe congenital neutropenia (SCN) associated with GCSF use. It is reported that skin rashes and biopsy findings of leukocytoclastic vasculitis following the use of G-CSF... - Humoral immunodeficiency in congenital insensitivity to pain with anhidrosisSara Sebnem Kilic
Department of Pediatric Immunology, Uludag University School of Medicine, Gorukle, Bursa, 16059, Turkey
Neurogenetics 10:161-5. 2009..The implication of the immune system of the reported patient broadens the clinical phenotype associated with NTRK1 mutations... - A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathicaS S Kilic
Immunology Unit, Department of Pediatrics, Uludag University School of Medicine, Gorukle, Bursa 16059, Turkey
Br J Dermatol 157:386-7. 2007 - Case 1: A small girl with a bird-like faceSara Sebnem Kilic
Department of Paediatrics, Uludag University School of Medicine, Gorukle-Bursa, Turkey
Acta Paediatr 95:1505-8. 2006 - Interferon-alpha treatment of molluscum contagiosum in a patient with hyperimmunoglobulin E syndromeSara Sebnem Kilic
Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
Pediatrics 117:e1253-1255. 2006..The patient was treated successfully with subcutaneous interferon-alpha for 6 months without any adverse effect... - Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new casesS S Kilic
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Pediatr Int 42:647-50. 2000..Transient hypogammaglobulinemia of infancy (THI) results from a delay in the maturation of immunoglobulin production... - Cardiac thrombus in Omenn syndromeS S Kilic
Department of Pediatrics, Uludag University Faculty of Medicine, Gorukle Bursa 16059, Turkey
Pediatr Cardiol 26:694-7. 2005..We investigated this patient for hypercoagulation and made a diagnosis of ventricular thrombosis, which is an uncommon finding in Omenn syndrome... - Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiencyS Sebnem Kilic
Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
Indian J Pediatr 70:389-92. 2003..IgG subclass deficiency or a lack of the IgG2 subclass that is specific against polysaccharide antigens, can be seen in many cases... - Vitamin a deficiency in patients with common variable immunodeficiencySara Sebnem Kilic
Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey
J Clin Immunol 25:275-80. 2005..These results show that CVID patients have low serum Vitamin A levels and high serum neopterin levels. A supplementation with Vitamin A may have role in downregulation of inflammatory responses in CVID patients... - Pulmonary involvement in a patient with dyskeratosis congenitaSebnem Kilic
Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
Pediatr Int 45:740-2. 2003 - Anti-tumour necrosis factor-alpha treatment of juvenile idiopathic arthritis in a patient with common variable immunodeficiencySara Sebnem Kilic
Uludag University Medical Faculty, Department of Pediatrics, Bursa, Turkey
J Trop Pediatr 51:194-5. 2005 - FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalitiesTahsin Yakut
Department of Medical Genetics, Medical Faculty, Uludag University, Bursa, Turkey
Pediatr Surg Int 22:380-3. 2006..2 deletion should be performed in the presence of combined of hypocalcemia and congenital cardiac malformations, with or without any characteristics of the disease. This may facilitate an early diagnosis in such patients... - A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and plateletsRonit Pasvolsky
Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel
J Exp Med 204:1571-82. 2007..Chemokine-triggered VLA-4 adhesiveness in T lymphocytes was partially defective as well. These studies identify CalDAG-GEFI as a critical regulator of inside-out integrin activation in human T lymphocytes, neutrophils, and platelets... - Schimke immunoosseous dysplasia: suggestions of genetic diversityJ Marietta Clewing
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Hum Mutat 28:273-83. 2007..This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD... - Association of migraine-like headaches with Schimke immuno-osseous dysplasiaSara Sebnem Kilic
Department of Pediatrics, Division of Immunology, Uludag University Medical Faculty, , Turkey
Am J Med Genet A 135:206-10. 2005..We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function...