A novel G6PC3 gene mutation in a patient with severe congenital neutropeniaCaner Aytekin
Department of Pediatric Immunology, University School of Medicine, Ankara, Turkey
J Pediatr Hematol Oncol 35:e81-3. 2013
..Leu154Pro). Most remarkable is that the chronic neutropenia that originated from this novel G6PC3 genetic defect is also accompanied by some other unusual manifestations in this patient: myelokathexis and hypercholesterolemia...
- Selective IgA deficiency: clinical and laboratory features of 118 children in Turkey
Caner Aytekin
Department of Pediatric Immunology, Dr Sami Ulus Maternity and Children s Health and Diseases Training and Research Hospital, 06080, Ankara, Turkey
J Clin Immunol 32:961-6. 2012
..Being the most comprehensive study conducted in Turkey, we believe it has importance in providing significant data on the clinical and laboratory characteristics of children with IgAD...
Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiencyC Aytekin
Dr Sami Ulus Children s Health and Diseases Training and Research Center, Ankara, Turkey
J Investig Allergol Clin Immunol 21:401-4. 2011
..Every attempt should be made to heighten awareness in countries where BCG vaccination is performed...
- Kostmann disease with developmental delay in three patients
Caner Aytekin
Dr Sami Ulus Children s Health and Diseases Training and Research Center, 06080 Ankara, Turkey
Eur J Pediatr 169:759-62. 2010
..Kostmann disease is caused by homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1. Here, we report three patients with Kostmann disease who, besides recurrent infections, have developmental delay...
- Eponym. Kostmann disease
Caner Aytekin
Dr Sami Ulus Children s Health and Diseases Training and Research Center, 06080 Ankara, Turkey
Eur J Pediatr 169:657-60. 2010
..Hematopoietic stem cell transplantation remains the only currently available treatment for refractory cases to G-CSF and patients who have transformed into leukemia...
- Purine nucleoside phosphorylase deficiency with fatal course in two sisters
Caner Aytekin
Dr Sami Ulus Children s Health and Diseases Training and Research Center, 06080 Ankara, Turkey
Eur J Pediatr 169:311-4. 2010
..An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment...
[TGF-Beta1-915G/C and TNF-alpha-308G/A polymorphisms in children with asthma]Caner Aytekin
Division of Pediatric Immunology Allergy, Department of Pediatric Health and Diseases, Faculty of Medicine, Ankara University, Ankara, Turkey
Tuberk Toraks 57:62-7. 2009
....
- An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication
Caner Aytekin
Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey
Pediatr Transplant 12:479-82. 2008
..This report presents a new PNP deficiency case successfully transplanted without a conditioning regimen from an HLA-identical family donor, who developed a complication of disseminated BCG infection...
- HLA-haploidentical transplantations for primary immunodeficiencies: a single-center experience
Funda Erol Cipe
Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey
Pediatr Transplant 16:451-7. 2012
..In conclusion, in the absence of a matched family donor, HLA-haploidentical transplantation from parental donors represents a readily available treatment option especially for patients with SCID, offering a high chance of cure...
- A novel mutation for TAP deficiency and its possible association with Toxoplasmosis
Figen Dogu
Ankara University School of Medicine, Department of Pediatric Immunology Allergy, and Dr Sami Ulus Chidren s Hospital, Ankara, Turkey
Parasitol Int 55:219-22. 2006
..His toxoplasmosis and skin lesions were successfully treated...
- Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features
Gonul Tanir
Dr. Sami Ulus Children Health and Diseases Training and Research Center, Hosdere Caddesi 166/3, Yukari Ayranci, 06550 Ankara, Turkey
Eur J Pediatr 165:415-7. 2006
- A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4
Figen Dogu
Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 48:66-8. 2006
..The diagnosis became definite with the detection of a de novo mutation at exon 4 of the WASP gene, Arg138Pro, through mutation analysis...
- Recurrent bacterial meningitis in children: our experience with 14 cases
Nilden Tuygun
Dr Sami Ulus Children s Health and Diseases Training and Research Center, Ankara, Turkey
Turk J Pediatr 52:348-53. 2010
..Vaccination and surgical treatment of the anatomical defects may be important...
