Sara Sebnem Kilic

Summary

Affiliation: Uludag University
Country: Turkey

Publications

  1. doi request reprint The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers study
    Sara S Kilic
    Department of Pediatric Immunology, Uludag University School of Medicine, Gorukle, Bursa, Turkey, 16059
    J Clin Immunol 33:74-83. 2013
  2. pmc A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome
    Sara S Kilic
    Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
    J Pediatr 160:1055-7. 2012
  3. ncbi request reprint Transfusion-associated graft-versus-host disease in severe combined immunodeficiency
    S Sebnem Kilic
    Department of Pediatric Immunology, Uludag University, School of Medicine, Bursa, Turkey
    J Investig Allergol Clin Immunol 20:153-6. 2010
  4. doi request reprint Leukocytoclastic vasculitis in patients with severe congenital neutropenia
    Sara Sebnem Kilic
    Department of Pediatric Immunology, Uludag University School of Medicine, Bursa, Turkey
    J Trop Pediatr 56:359-62. 2010
  5. doi request reprint Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
    Sara Sebnem Kilic
    Department of Pediatric Immunology, Uludag University School of Medicine, Gorukle, Bursa, 16059, Turkey
    Neurogenetics 10:161-5. 2009
  6. ncbi request reprint A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica
    S S Kilic
    Immunology Unit, Department of Pediatrics, Uludag University School of Medicine, Gorukle, Bursa 16059, Turkey
    Br J Dermatol 157:386-7. 2007
  7. ncbi request reprint Case 1: A small girl with a bird-like face
    Sara Sebnem Kilic
    Department of Paediatrics, Uludag University School of Medicine, Gorukle Bursa, Turkey
    Acta Paediatr 95:1505-8. 2006
  8. ncbi request reprint Interferon-alpha treatment of molluscum contagiosum in a patient with hyperimmunoglobulin E syndrome
    Sara Sebnem Kilic
    Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
    Pediatrics 117:e1253-1255. 2006
  9. ncbi request reprint Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases
    S S Kilic
    Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
    Pediatr Int 42:647-50. 2000
  10. ncbi request reprint Cardiac thrombus in Omenn syndrome
    S S Kilic
    Department of Pediatrics, Uludag University Faculty of Medicine, Gorukle Bursa 16059, Turkey
    Pediatr Cardiol 26:694-7. 2005

Collaborators

Detail Information

Publications19

  1. doi request reprint The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers study
    Sara 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...
  2. pmc A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome
    Sara 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...
  3. ncbi request reprint Transfusion-associated graft-versus-host disease in severe combined immunodeficiency
    S 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...
  4. doi request reprint Leukocytoclastic vasculitis in patients with severe congenital neutropenia
    Sara 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...
  5. doi request reprint Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
    Sara 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...
  6. ncbi request reprint A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica
    S S Kilic
    Immunology Unit, Department of Pediatrics, Uludag University School of Medicine, Gorukle, Bursa 16059, Turkey
    Br J Dermatol 157:386-7. 2007
  7. ncbi request reprint Case 1: A small girl with a bird-like face
    Sara Sebnem Kilic
    Department of Paediatrics, Uludag University School of Medicine, Gorukle Bursa, Turkey
    Acta Paediatr 95:1505-8. 2006
  8. ncbi request reprint Interferon-alpha treatment of molluscum contagiosum in a patient with hyperimmunoglobulin E syndrome
    Sara 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...
  9. ncbi request reprint Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases
    S 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...
  10. ncbi request reprint Cardiac thrombus in Omenn syndrome
    S 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...
  11. ncbi request reprint Vitamin a deficiency in patients with common variable immunodeficiency
    Sara 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...
  12. ncbi request reprint Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency
    S 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...
  13. ncbi request reprint Pulmonary involvement in a patient with dyskeratosis congenita
    Sebnem Kilic
    Department of Pediatrics, Uludag University School of Medicine, Bursa, Turkey
    Pediatr Int 45:740-2. 2003
  14. doi request reprint Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency
    Sara Sebnem Kilic
    Pediatric Immunology Division, Department of Pediatrics, Uludag University Medical Faculty, Gorukle Bursa 16059, Turkey
    J Infect 65:568-72. 2012
    ..679G > A in the IFNGR2 gene, resulting in a G227R substitution, that caused IFN-γR2 deficiency. This is only the 8th mutation in IFN-γR2 known so far. The boy eventually died of hepatic coma due to liver failure at the age of five...
  15. ncbi request reprint FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities
    Tahsin 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...
  16. ncbi request reprint Anti-tumour necrosis factor-alpha treatment of juvenile idiopathic arthritis in a patient with common variable immunodeficiency
    Sara Sebnem Kilic
    Uludag University Medical Faculty, Department of Pediatrics, Bursa, Turkey
    J Trop Pediatr 51:194-5. 2005
  17. pmc A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets
    Ronit 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...
  18. ncbi request reprint Schimke immunoosseous dysplasia: suggestions of genetic diversity
    J 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...
  19. ncbi request reprint Association of migraine-like headaches with Schimke immuno-osseous dysplasia
    Sara Sebnem Kilic
    Department of Pediatrics, Division of Immunology, Uludag University Medical Faculty, Gorukle Bursa, 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...