Genomes and Genes
Affiliation: Hacettepe University
- A case of interleukin-12 receptor beta-1 deficiency with recurrent leishmaniasisOzden Sanal
Divisions of Immunology, Hacettepe University Children s Hospital, Ankara, Turkey
Pediatr Infect Dis J 26:366-8. 2007..We report a 5-year-old patient with IL-12Rbeta1 deficiency who developed recurrent visceral leishmaniasis 6 months apart. The patient responded to lyposomal amphotericin B treatment reasonably well...
- Thirty years of primary immunodeficiencies in TurkeyOzden Sanal
Immunology Division, Hacettepe University Children s Hospital, Ankara, Turkey
Ann N Y Acad Sci 1238:15-23. 2011....
- Additional diverse findings expand the clinical presentation of DOCK8 deficiencyOzden Sanal
Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, 06100, Turkey
J Clin Immunol 32:698-708. 2012..Particularly for patients who feature unusual clinical manifestations, immunological testing, in conjunction with genetic testing, can prove invaluable in diagnosing DOCK8 deficiency and providing potentially curative treatment...
- Antibody response to a seven-valent pneumococcal conjugated vaccine in patients with ataxia-telangiectasiaOzden Sanal
Immunology Division, Ihsan Dogramaci Children s Hospital, Hacettepe University, 06100 Ankara, Turkey
J Clin Immunol 24:411-7. 2004..In conclusion, A-T patients failed to respond to one dose of PCV7 vaccine. Two or more doses of conjugated vaccine may be required to recruit the help of T lymphocytes in A-T patients...
- Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasiaOzden Sanal
Department of Molecular Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 46:208-13. 2004..Our results suggest that the extent and severity of the recurrent sinopulmonary infections may depend not only on the immunological defects but also on other ATM-dependent physiological responses...
- Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patientsDeniz Cağdaş
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey
Eur J Pediatr 171:1527-31. 2012..Since prognosis, treatment options, and genetic counseling markedly differ among different types, molecular characterization has utmost importance in GS...
- Clinical features of chronic granulomatous disease: a series of 26 patients from a single centerTuba Turul-Ozgür
Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 52:576-81. 2010..Overall mortality was 19.2%. These results showed that all features in our group (clinical, progression and outcome) were similar to the literature except for the predominance of autosomal recessive form...
- Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneityOzden Sanal
Hacettepe University, Ihsan Dogramaci Children s Hospital, Immunology Division, Ankara, Turkey
J Clin Immunol 22:237-43. 2002..This genotype-phenotype correlation suggests that the natural course of the disease and outcome is dictated by the site and type of the genetic mutation...
- Presentation of interleukin-12/-23 receptor beta1 deficiency with various clinical symptoms of Salmonella infectionsOzden Sanal
Immunology Division, Hacettepe University Children s Hospital, Ankara, Turkey
J Clin Immunol 26:1-6. 2006..IL-12/IL-23p40/IL-12R/IL-23Rbeta1 deficiency seem to be underdiagnosed in patients with salmonellosis, and since such patients need prolonged therapy, diagnosis is important...
- A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinaseLütfiye Mesci
Immunology Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 48:362-4. 2006..Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder...
- Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftmentIlhan Tezcan
Ihsan Dogramaci Children s Hospital, Sihhiye, Ankara, Turkey
J Pediatr 146:137-40. 2005..Both patients had the same JAK3 gene mutation, suggesting that maternal engraftment may result in immune competence leading to long-term survival in patients with severe combined immune deficiency...
- Hereditary C1q deficiency: a new family with C1qA deficiencyCağman Sun-Tan
Division of Immunology, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 52:184-6. 2010..Molecular study disclosed a homozygous point mutation in the C1qA chain gene. Five members of the family, including the parents and three healthy siblings, were heterozygous for this mutation...
- Parvovirus B19-induced persistent pure red cell aplasia in a child with T-cell immunodeficiencyBetul Tavil
Hacettepe University, Pediatric Hematology Unit, 06100 Sihhiye, Ankara, Turkey
Pediatr Hematol Oncol 26:63-8. 2009..Diagnosis may require demonstration of absence of late erythroid precursors in the bone marrow as well as serologic testing and detection of parvovirus B19 genome by PCR in the serum and/or bone marrow samples of the patient...
- The efficacy of immunoglobulin replacement therapy in the long-term follow-up of the B-cell deficiencies (XLA, HIM, CVID)Benan Bayrakci
Division of Immunology, Department of Pediatrics Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 47:239-46. 2005..Serum IgG levels between 300-500 mg/dl are sufficient for effective treatment of hypogammaglobulinemias. These concentrations can be maintained with 300-400 mg/kg/month doses. Higher doses and IgG levels are not needed...
- STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutationSevil Oskay Halacli
Hacettepe University, Institute of Child Health, Department of Pediatric Immunology, Sihhiye, 06100 Ankara, Turkey Electronic address
Clin Immunol 161:316-23. 2015..Determination of the underlying defect and reporting the patients are required for the description of the phenotypic spectrum of each immunodeficiency. ..
- Antioxidant enzymes in red blood cells and lymphocytes of ataxia-telangiectasia patientsYasemin Aksoy
Department of Biochemistry, Hacettepe University Faculty of Medicine, Ankara, Turkey
Turk J Pediatr 46:204-7. 2004..Our results may be another indication for the presence of constant oxidative stress in A-T patients as suggested previously...
- Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantationDeniz Cağdaş
Department of Pediatrics, Section of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Pediatr Transplant 16:E167-71. 2012..Now, both of the patients are well and alive seven and one yr after transplantation, respectively. A remarkable observation was the severe diarrhea that occurred in both patients soon after transplantation...
- Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndromeTuba Turul Ozgur
Division of Immunology, Hacettepe University Children s Hospital, Ankara, Turkey
J Pediatr Hematol Oncol 29:327-9. 2007..However, FVIII inhibitor reappeared 7 months later, and disappeared spontaneously 4 months ago. Long-term and close follow-up is needed to observe the long-term prognosis in this child...
- Investigation of genetic defects in severe combined immunodeficiency patients from Turkey by targeted sequencingBaran Erman
Ihsan Dogramaci Children s Hospital, Department of Immunology, Hacettepe University, Ankara, Turkey
Scand J Immunol . 2017..In addition, this method can be useful for screening of PID patients. This article is protected by copyright. All rights reserved...
- Multifocal leiomyosarcomatosis in a 6-year-old child with epidermodysplasia verruciformis and immune defectOzlem Boybeyi
Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey
J Pediatr Surg 44:e5-8. 2009..A 6-year-old girl, who has had multifocal leiomyosarcomatosis after the previous diagnoses of epidermodysplasia verruciformis and immune defect, represents an interesting association of these features...
- The effect of mannose-binding protein gene polymorphisms in recurrent respiratory system infections in children and lung tuberculosisFiliz Ozbas-Gerçeker
TUBITAK DNA Cell Bank and Gene Research Laboratory, Ankara, Turkey
Turk J Pediatr 45:95-8. 2003..It was found to be significantly lower in children with recurrent respiratory system infections than in controls (chi2: 4.68, d.f: 1, p: 0.030)...
- Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPSCagman Tan
Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara
Turk J Pediatr 57:141-5. 2015..Our results suggest that CASP8 and FAS gene polymorphisms in particular, may contribute to the susceptibility to development of ALPS phenotype...
- A novel mutation in leukocyte adhesion deficiency type II/CDGIIcDeniz Cağdaş
Section of Pediatric Immunology, Hacettepe University, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
J Clin Immunol 34:1009-14. 2014..Secundum atrial septal defect which was not described in previously reported patients, but present in both of our patients, may primarily related to the defect in fucosylation. ..
- The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: case reportsTolga Fikret Tözüm
Department of Periodontology, Faculty of Dentistry, Hacettepe University, Ankara, Turkey
Quintessence Int 34:221-6. 2003..This report demonstrates that periodontal therapy supported by adequate oral hygiene may result in restoration of neutrophil counts in siblings with congenital neutropenia...
- C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasmaRezan Topaloglu
Department of Pediatric Nephrology and Rheumatology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey
Clin Rheumatol 31:1123-6. 2012..Regular fresh frozen plasma infusions to the patient have been clinically and therapeutically successful...
- Association of tumour necrosis factor-alpha -308 G/A polymorphism with primary open-angle glaucomaBanu Bozkurt
Department of Ophthalmology, Selcuk University, Meram Medical Faculty, Konya, Turkey
Clin Exp Ophthalmol 40:e156-62. 2012..The aim of the study was to evaluate the association of TNF-α -308 G/A and -238 G/A polymorphisms with primary open-angle glaucoma (POAG)...
- Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-upRezan Topaloglu
Pediatric Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey
Clin Rheumatol 27:1317-20. 2008..We are reporting a case evaluated for the complaints of abdominal pain and febrile episodes with massive hepatomegaly, not common finding on physical examination, its treatment with etanercept, and long-term follow-up...
- Malignant solid tumors associated with congenital immunodeficiency disordersAli Varan
Department of Pediatric Oncology, Hacettepe University, Institute of Oncology, Ankara, Turkey
Pediatr Hematol Oncol 21:441-51. 2004..The survival rates of the malignant diseases were very poor in immunodeficiency. Overall survival in non-Hodgkin lymphoma patients was relatively worse than Hodgkin disease patients...
- Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapyAslihan Taskiran Sag
Institute of Neurological Sciences and Psychiatry Department of Neurology, Hacettepe University, Ankara, Turkey Department of Pediatrics, Immunology Allergy, Akdeniz University, Faculty of Medicine, Antalya, Turkey Department of Immunology, Hacettepe University, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
Cogn Behav Neurol 27:155-9. 2014..The syndrome causes severe cognitive and physical disability, and can eventually be fatal. The autoimmunity results from dysregulated immune responses, but the underlying mechanism has not yet been fully explained. ..
- Hodgkin's disease and ataxia telangiectasia with pulmonary cavitiesBilgehan Yalcin
Department of Pediatric Oncology, Institute of Oncology, Hacettepe University, Ankara, Turkey
Pediatr Pulmonol 33:399-403. 2002..The increased incidence of malignancies in AT patients may relate to immunodeficiency and to the chromosomal alterations identified...
- Early diagnosis of ataxia-telangiectasia using radiosensitivity testingXia Sun
Department of Pathology, UCLA School of Medicine, Los Angeles, California 90095 1732, USA
J Pediatr 140:724-31. 2002..To utilize radiosensitivity testing to improve early diagnosis of patients with ataxia-telangiectasia (A-T)...
- Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellaeTom H M Ottenhoff
Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
Nat Genet 32:97-105. 2002..Ten syndromes have thus far been identified. Recent insights in genetically controlled host defense and susceptibility to mycobacterial disease are discussed...
- Comprehensive scanning of the ATM gene with DOVAM-SCarolyn H Buzin
Department of Molecular Genetics, City of Hope National Medical Center, Duarte, California 91010 3000, USA
Hum Mutat 21:123-31. 2003..DOVAM-S is a rapid, efficient method of performing A-T diagnosis and carrier testing on a clinical time scale...
- Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiencyElgin G R Lichtenauer-Kaligis
Department of Infectious Diseases, Leiden University Medical Center, Leiden, The Netherlands
Eur J Immunol 33:59-69. 2003..Collectively, our findings indicate that idiopathic, unusually severe infections due to M. bovis BCG can be caused by complete as well as partial IL-12Rbeta1 deficiency...
- Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humansCalman MacLennan
Medical Research Council Centre for Immune Regulation, Division of Immunity and Infection, University of Birmingham, Birmingham, Alabama, USA
J Infect Dis 190:1755-7. 2004..Investigation of the IL-12/IL-23-IFN- gamma axis should be considered in patients with invasive salmonella disease...
- Recurrent Salmonella bacteremia in interleukin-12 receptor beta1 deficiencyMetehan Ozen
Inonu University, Faculty of Medicine, Division of Pediatric Infectious Disease, Malatya, Turkey
J Trop Pediatr 52:296-8. 2006..We describe a 2.5 year-old girl with IL12RB1 deficiency, caused by a homozygous mutation in this gene, who presented with recurrent bacteremia caused by Salmonella spp...