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Öğe Analysis of the CD40 and CD40LG in Turkish Hyper IgM Syndrome: Mutation profile and description of six novel mutations(Nature Publishing Group, 2019) Uzay, E.; Aykut, A.; Durmaz, A.; Karaca, N.; Gulez, N.; Kutukculer, N.; Cogulu, O.[No abstract available]Öğe BCG-OSIS Causing Excessive Hyperferritinemia in a Patient with NEMO Mutation(Springer/Plenum Publishers, 2014) Karaca, N. E.; Ulusoy, E.; Aksu, G.; Bustamante, J.; Feinberg, J.; Casanova, J. L.; Kutukculer, N.Öğe BCGosis and hyperferritinemia(Springer International Publishing, 2019) Karaca, N.E.; Aksu, G.; Kutukculer, N.[No abstract available]Öğe A case report: Wiskott Aldrich syndrome accompanied with multipl food allergies(Wiley-Blackwell, 2014) Gunaydin, Cigerci N.; Karaca, N.; Karadas, N.; Bal, M.; Gulen, F.; Tanac, R.; Aksu, G.; Kutukculer, N.; Demir, E.Öğe CD4+CD25+Foxp3+T Regulatory Cells, Th1 (CCR5, IL-2, IFN-G) and Th2 (CCR4, IL-4, IL-13) Type Chemokine Receptors and Intracellular Cytokines in Children with Common Variable Immunodeficiency(Springer/Plenum Publishers, 2014) Kutukculer, N.; Karaca, N. E.; Azarsiz, E.Öğe Classification of common variable immunodeficiency patients according to clinical and lymphocytic phenotypes(Wiley-Blackwell Publishing, Inc, 2008) Aksu, G. A.; Karaca, N.; Gulez, N.; Genel, F.; Kutukculer, N.Öğe Clinical and genetic heterogeneity of hyper IgE syndrome in a Turkish cohort(Wiley-Blackwell Publishing, Inc, 2008) Keles, S.; Karakoc-Aydiner, E.; Ozdemir, C.; Reisli, I; Camcioglu, Y.; Somer, A.; Kutukculer, N.; Yegin, O.; Yilmaz, M.; Kucukosmanoglu, E.; Genel, F.; Baki, A.; Bahceciler, N. N.; McGhee, S.; Chatila, T.; Barlan, I. B.Öğe Clinical and molecular analysis in seven patients with chronic granulomatous disease and BCG-osis and tuberculosis in three of them(Wiley-Blackwell Publishing, Inc, 2008) Kutukculer, N.; Karaca, N.; Bustamante, J.; Gulez, N.; Aksu, G.; Casanova, J-LÖğe Clinical Picture and Treatment of 2212 Patients with Common Variable Immunodeficiency (CVID)(Springer/Plenum Publishers, 2014) Gathmann, B.; Mahlaoui, N.; Warnatz, K.; Kuijpers, T. W.; Guzman, D.; Soler-Palacin, P.; Witte, T.; Litzman, J.; Borte, S.; Kumararatne, D.; Feighery, C.; Longhurst, H.; Helbert, M.; Szaflarska, A.; Sediva, A.; Belohradsky, B. H.; Jones, A.; Baumann, U.; Meyts, I.; Kutukculer, N.; Wagstron, P.; Galal, N. M.; Roesler, J.; Farmaki, E.; Zinovieva, N.; Ciznar, P.; Papadopoulou-Alataki, E.; Bienemann, K.; Velbri, S.; Grimbacher, B.Öğe Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients(Nature Publishing Group, 2018) Aykut, A.; Karaca, N.; Durmaz, A.; Pariltay, E.; Aksu, G.; Kutukculer, N.; Cogulu, O.[No Abstract Available]Öğe Constrictive aspergillosis pericarditis(Springer International Publishing, 2019) Karaca, N.E.; Aksu, G.; Kutukculer, N.[No abstract available]Öğe Desensitization and tolerance in cow's milk allergy(Wiley, 2017) Gunaydin, Cigerci N.; Demir, E.; Azarsiz, E.; Susluer, Yilmaz S.; Kutukculer, N.; Gunduz, C.; Gulen, F.; Aksu, G.; Tanac, R.Öğe Differences in Clinical Outcome in Patients with Common Variable Immunodeficiency Treated with Ig Replacement Therapy: Results from the ESID Database(Mosby-Elsevier, 2011) Kindle, G.; Warnatz, K.; Paschenko, O.; Kumararatne, D.; Kilic, S. S.; Thon, V.; Witte, T.; Helbert, M.; Kuijpers, T. W.; Exley, A.; Mahlaoui, N.; Notheis, G.; Longhurst, H.; Baumann, U.; Jones, A.; Kutukculer, N.; Borte, M.; Wagstrom, P.; Feighery, C.; Szaflarska, A.; Ritterbusch, H.; Reda, S.; Kononova, T.; Panahloo, Z.; Grimbacher, B.Öğe Differences in Ig Replacement Therapy Dosing in Patients with Common Variable Immunodeficiency in Europe: Results from the ESID Database(Mosby-Elsevier, 2011) Gathmann, B.; Mahlaoui, N.; Warnatz, K.; Kuijpers, T. W.; Kilic, S. S.; Thon, V.; Arkwright, P. D.; Kumararatne, D.; Exley, A.; Borte, M.; Jones, A.; Belohradsky, B. H.; Baumann, U.; Kutukculer, N.; Witte, T.; Feighery, C.; Wagstrom, P.; Longhurst, H.; Linde, R.; Ritterbusch, H.; Farmaki, E.; Sediva, A.; Papadopoulou-Alataki, E.; Panahloo, Z.; Grimbacher, B.Öğe Disseminated BCG Infectious Disease and Hyperferritinemia in a Patient With a Novel NEMO Mutation(Esmon Publicidad S A, 2016) Karaca, N. E.; Aksu, G.; Ulusoy, E.; Cavusoglu, C.; Oleaga-Quintas, C.; Nieto-Patlan, A.; Richard, M. E.; Deswarte, C.; Casanova, J. L.; Bustamante, J.; Kutukculer, N.Öğe DO ELEVATED SERUM IgM LEVELS HAVE TO BE INCLUDED IN PROBABLE DIAGNOSIS CRITERIA OF PATIENTS WITH ATAXIA-TELANGIECTASIA?(Sage Publications Inc, 2014) Azarsiz, E.; Karaca, N. E.; Gunaydin, N. C.; Gulez, N.; Ozturk, C.; Aksu, G.; Genel, F.; Kutukculer, N.Ataxia-telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder that is characterised by progressive neurological abnormalities, oculocutaneous telangiectasias and immunodeficiency. Delay in diagnosis or misdiagnosis is probable due to its wide clinical heterogeneity in infancy. Recurrent sinopulmonary infections are often the only presenting symptom and usually patients have decreased immunoglobulins. A total 10% of patients who present with decreased serum immunoglobulin G and A and with normal or elevated immunoglobulin M levels are often misdiagnosed as hyperimmunoglobulin M syndrome. Definitive diagnosis is made if a patient with progressive cerebellar ataxia has a disease causing mutation on the ATM gene. Ataxia-telangiectasia guideline of the European Society for Immunodeficiencies defines the probable diagnosis criteria. We evaluated twenty ataxia-telangiectasia patients (mean age 13.8 +/- 4.1 years) retrospectively who were followed-up for a mean of 38.6 +/- 27.0 months. Twelve patients had a family history of consanguinity. A total of 80% patients suffered from various infections. Neoplasms occurred in three of them. Patients showed immunological abnormalities as low IgG (45%), low IgA (65%) and elevated IgM (60%) levels. CD3(+)CD4(+) T lymphocyte frequency was low in 45% patients. The mean AFP concentration at the diagnosis was 191.9 +/- 140.1 ng/mL and the raised IgM values did not show any statistically significant relationship with high AFP concentrations. Frequency of the elevated IgM concentrations in (60%) patients raises the concerns about thinking this finding has to be accepted as a probable diagnosis criterium.Öğe Do Elevated Serum IGM Levels Have to Be Included in Probable Diagnosis Criteria of Patients With Ataxia-Telangiectasia?(Springer/Plenum Publishers, 2014) Azarsiz, E.; Karaca, N. E.; Gunaydin, N. C.; Gulez, N.; Ozturk, C.; Aksu, G.; Genel, F.; Kutukculer, N.Öğe DOCK8 deficiency and diagnostic guidelines for hyper-IgE syndromes(Wiley-Blackwell, 2012) Engelhardt, K.; Gertz, E.; Keles, S.; Schaeffer, A.; Ceja, R.; Sassi, A.; Graham, L.; Massaad, M.; Mellouli, F.; Benmustapha, I; Khemiri, M.; Kilic, S.; Etzioni, A.; Freeman, A.; Thiel, J.; Schulze, I; Al-Herz, W.; Metin, A.; Sanal, O.; Yeganeh, M.; Niehues, T.; Siepermann, K.; Weinspach, S.; Unal, E.; Patiroglu, T.; Dasouki, M.; Yilmaz, M.; Genel, F.; Aytekin, C.; Kutukculer, N.; Somer, A.; Kilic, M.; Reisli, I; Camcioglu, Y.; Gennery, A.; Cant, A.; Jones, A.; Gaspar, H.; Pietrogrande, M.; Baz, Z.; Al-Tamemi, S.; Lougaris, V; Lefranc, G.; Megarbane, A.; Boutros, J.; Galal, N.; Bejaoui, M.; Barbouche, M.; Geha, R.; Chatila, T.; Grimbacher, B.Öğe Early-onset inflammatory bowel disease(Springer International Publishing, 2019) Karaca, N.E.; Aksu, G.; Kutukculer, N.[No abstract available]Öğe ECONOMIC BURDEN OF PRIMARY IMMUNODEFICIENCY (PIDD) IN TURKEY(Elsevier Science Inc, 2016) Malhan, S.; Ikinciogullari, A.; Dogu, F.; Kilic, S.; Kutukculer, N.; Reisli, I; Tezcan, I; Guner, N. S.; Cekic, S.; Karaca, N.; Oksuz, E.
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