Full Text Journal Articles by
Author Deniz Cagdas

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Correction to: Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia.

Buket Acar, Deniz Cagdas, Çağman Tan, Begüm Özbek, İsmail Yaz, Yağmur Deniz Yıldırım, Cansu Özşin-Özler, Betül Karaatmaca, Pınar Gür-Çetinkaya, Elif Soyak, Erdem Karabulut, İlhan Tezcan, Ezel Berker,

Odontology (Odontology)
[2020, :]

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Long Term Follow-Up of the Patients with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation: A Single-Center Study.

Duygu Demirtas, Deniz Cagdas, Tuba Turul Ozgur, Baris Kuskonmaz, Duygu Uckan Cetinkaya, Ozden Sanal, Ilhan Tezcan,

<b>Background</b>: We aimed to evaluate hematopoietic stem cell transplantation (HSCT) related outcomes of patients with severe combined immunodeficiency (SCID). <b>Methods</b>: We retrospectively collected data from SCID patients who were diagnosed, followed up and survived at least 2 years after HSCT. <b>Results</b>: Forty four SCID patients were included in the study. ... Read more >>

Immunol Invest (Immunological investigations)
[2021, :1-9]

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A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess.

Elif Soyak Aytekin, Oguzhan Serin, Deniz Cagdas, Cagman Tan, Tekin Aksu, Yagmur Unsal, Selma Yeni, Diclehan Orhan, Zeynep Alev Ozon, Ilhan Tezcan,

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (polyglandular endocrinopathy type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). The major clinical features of APECED are hypoparathyroidism, adrenal insufficiency (Addison disease), and chronic mucocutaneous candidiasis. This disease is also associated with multiple other and uncommon autoimmune ... Read more >>

Pediatr Infect Dis J (The Pediatric infectious disease journal)
[2021, 40(1):66-69]

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Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia.

Buket Acar, Deniz Cagdas, Çağman Tan, Begüm Özbek, İsmail Yaz, Yağmur Deniz Yıldırım, Cansu Özşin-Özler, Betül Karaatmaca, Pınar Gür-Çetinkaya, Elif Soyak, Erdem Karabulut, İlhan Tezcan, Ezel Berker,

Severe congenital neutropenia (SCN) is a primary immunodeficiency characterized by defect in neutrophil count. Increased risk of infections in addition to periodontal problems, such as ulcerations of oral mucosa, gingival inflammation, and rapid loss of attachment are common in the course of the disease. The aim of the present study ... Read more >>

Odontology (Odontology)
[2020, :]

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Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency.

Pınar Gur Cetinkaya, Deniz Cagdas, Tugba Arikoglu, Fatma Gumruk, Ilhan Tezcan,

Objectives Severe congenital neutropenia (SCN) is a primary immunodeficiency (PID) characterized by persistent severe neutropenia, recurrent infections, and oral aphthous lesions. Severe congenital neutropenia is caused by various genetic defects such as ELANE, GFI, HAX-1, JAGN1, SRP54, and glucose-6 phosphatase catalytic subunit 3 (G6PC3) deficiency. Clinical features of the patients ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2020, 33(7):957-961]

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Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.

Pinar G Cetinkaya, Deniz Cagdas, Fatma Gumruk, Ilhan Tezcan,

Hemophagocytic lymphohistiocytosis (HLH) is characterized by uncontrolled and excessive immune responses with high mortality. We aimed to define mortality-related parameters in HLH secondary to primary immunodeficiency (PID). A total of 28 patients with HLH between the years 2013 and 2017 were enrolled in the study. The patients were evaluated in ... Read more >>

J Pediatr Hematol Oncol (Journal of pediatric hematology/oncology)
[2020, 42(6):e434-e439]

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Mutational landscape of severe combined immunodeficiency patients from Turkey.

Sinem Firtina, Yuk Yin Ng, Ozden Hatirnaz Ng, Ayca Kiykim, Elif Aydiner, Serdar Nepesov, Yildiz Camcioglu, Esra H Sayar, Ismail Reisli, Selda H Torun, Tuba Cogurlu, Dilara Uygun, Isil E Simsek, Aysenur Kaya, Funda Cipe, Deniz Cagdas, Esra Yucel, Sukru Cekic, Vedat Uygun, Safa Baris, Ahmet Ozen, Ugur Ozbek, Muge Sayitoglu,

Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation sequencing (NGS) has recently enabled rapid identification of the molecular aetiology of SCID, which is crucial for prognosis and treatment ... Read more >>

Int J Immunogenet (International journal of immunogenetics)
[2020, 47(6):529-538]

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Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey.

Begum Ozbek, Cagman Tan, Ismail Yaz, Can Kosukcu, Saliha Esenboga, Pınar Gur Cetinkaya, Deniz Cagdas, Ilhan Tezcan,

BACKGROUND:Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Certain gene loci are pointed out in several studies in CVID patients. Until now, monogenic defects have been identified in only 2-10% of CVID patients; therefore, association of the disease with HLA alleles may be important for elucidating immunological ... Read more >>

Immunol Invest (Immunological investigations)
[2020, :1-9]

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Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect.

Deniz Çağdaş, Naz Sürücü, Çağman Tan, Başak Kayaoğlu, Rıza Köksal Özgül, Yeliz Z Akkaya-Ulum, Ayşe Tülay Aydınoğlu, Selin Aytaç, Fatma Gümrük, Burcu Balci-Hayta, Banu Balci-Peynircioğlu, Seza Özen, Mayda Gürsel, İlhan Tezcan,

INTRODUCTION:H Syndrome is an autosomal recessive (AR) disease caused by defects in SLCA29A3 gene. This gene encodes the equilibrative nucleoside transporter, the protein which is highly expressed in spleen, lymph node and bone marrow. Autoinflammation and autoimmunity accompanies H Syndrome (HS). AIM:The aim was to further elucidate the mechanisms of ... Read more >>

Mol Immunol (Molecular immunology)
[2020, 121:28-37]

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Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children.

Deniz Dogru, Sanem E Polat, Çağman Tan, İlhan Tezcan, Sıddıka S Yalçın, Eda Utine, Berna Oğuz, İsmail Yaz, Nagehan Emiralioğlu, Mina Hızal, Ebru Yalçın, Uğur Özçelik, Deniz Çağdaş, Nural Kiper,

BACKGROUND:Mannose-binding lectin (MBL) is a complement protein involved in the innate immune system, and is associated with some chronic respiratory diseases including noncystic fibrosis (non-CF) bronchiectasis in adults. The aim of this study was to investigate the frequency of MBL2 gene polymorphisms in children with non-CF bronchiectasis, and the effect ... Read more >>

Pediatr Pulmonol (Pediatric pulmonology)
[2020, 55(5):1190-1198]

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A rare form of congenital neutropenia: VPS45 deficiency.

Betül Karaatmaca, Deniz Cagdas, Çağman Tan, Selin Aytaç, Begüm Özbek, Ayşegül Üner, Fatma Gümrük, İlhan Tezcan,

Scand J Immunol (Scandinavian journal of immunology)
[2020, 91(5):e12871]

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Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study.

Ismail Yaz, Begum Ozbek, Yuk Yin Ng, Pinar Gur Cetinkaya, Sevil Oskay Halacli, Cagman Tan, Merve Kasikci, Can Kosukcu, Ilhan Tezcan, Deniz Cagdas,

Common variable immunodeficiency (CVID) results in defective B cell differentiation and impaired antibody production and is the most common symptomatic primary immunodeficiency. Our aim was to evaluate the correlation among B cell subgroups, κ-deleting recombination excision circle (KREC) copy numbers, and clinical and immunological data of the patients with CVID, ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2020, 40(3):494-502]

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Recurrent skin abscesses in a female X-linked chronic granulomatous disease carrier.

Burak Altintas, Deniz Cagdas, Karin van Leeuwen, Martin de Boer, Dirk Roos, İlhan Tezcan,

J Cosmet Dermatol (Journal of cosmetic dermatology)
[2020, 19(7):1810-1812]

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Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency.

Ismail Solmaz, Elif Soyak Aytekin, Deniz Çağdaş, Cagman Tan, Ilhan Tezcan, Rahsan Gocmen, Goknur Haliloglu, Banu Anlar,

Defects in the regulatory components of the complement system can lead to inflammatory diseases. We present a patient who had four episodes of demyelination in the central nervous system as the only manifestation of inherited CD59 deficiency. Relapsing encephalopathy partially responsive to intravenous immunoglobulin and steroid treatments on the background ... Read more >>

Neuropediatrics (Neuropediatrics)
[2020, 51(3):206-210]

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ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

Ozlem Akgun-Dogan, Pelin O Simsek-Kiper, Ekim Taskiran, Christina Lissewski, Julia Brinkmann, Denny Schanze, Rahşan Göçmen, Deniz Cagdas, Yelda Bilginer, Gülen E Utine, Martin Zenker, Seza Ozen, İlhan Tezcan, Mehmet Alikasifoglu, Koray Boduroğlu,

Noonan syndrome-like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by germline mutations in genes that encode components acting in the RAS/MAPK pathway. Among RASopathies, NS/LAH (OMIM 607721) is an extremely rare, multiple anomaly syndrome characterized by dysmorphic facial ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2019, 179(12):2474-2480]

Cited: 1 time

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A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.

Deniz Cagdas, Sevil Oskay Halaçlı, Çağman Tan, Bernice Lo, Pınar Gür Çetinkaya, Saliha Esenboğa, Betül Karaatmaca, Helen Matthews, Burcu Balcı-Hayta, Tuba Arıkoğlu, Fatih Ezgü, Elifcan Aladağ, İnci N Saltık-Temizel, Hülya Demir, Barış Kuşkonmaz, Visal Okur, Fatma Gümrük, Hakan Göker, Duygu Çetinkaya, Kaan Boztuğ, Michael Lenardo, Özden Sanal, İlhan Tezcan,

<h4>Introduction</h4>Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency was shown to be responsible for different types of inborn errors of immunity, such as common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). The aim of this study was to compare patients with LRBA-related ALPS and LRBA-related CVID, to describe ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2019, 39(7):726-738]

Cited: 2 times

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Clinical Features and HSCT Outcome for SCID in Turkey.

Aydan Ikinciogullari, Deniz Cagdas, Figen Dogu, Tuba Tugrul, Gulsum Karasu, Sule Haskologlu, Serap Aksoylar, Vedat Uygun, Alphan Kupesiz, Alisan Yildiran, Orhan Gursel, Can Ates, Atilla Elhan, Savas Kansoy, Akif Yesilipek, Ilhan Tezcan, ,

Severe combined immunodeficiency (SCID) is the most serious PID, characterized by T cell lymphopenia and lack of antigen-specific T cell and B cell immune responses, inevitably leading to death within the first year of life if hematopoietic stem cell transplantation (HSCT) is not performed.<h4>Purpose and methods</h4>Since SCID is a common ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2019, 39(3):316-323]

Cited: 0 times

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B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy.

Fehime K Eroglu, Fatima Aerts Kaya, Deniz Cagdas, Tuba Turul Özgür, Togay Yılmaz, İlhan Tezcan, Özden Sanal,

<h4>Purpose</h4>Transient hypogammaglobulinemia of infancy (THI) is a common immunodeficiency, but definitive diagnosis can only be made retrospectively. While the pathogenesis is still unknown, abnormalities have been reported in the B cell compartment. In this study, we analysed the B cell subsets of patients with an initial THI diagnosis (n = 20) and ... Read more >>

Scand J Immunol (Scandinavian journal of immunology)
[2018, 88(4):e12709]

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Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Tala Shahin, Dominik Aschenbrenner, Deniz Cagdas, Sevgi Köstel Bal, Cecilia Domínguez Conde, Wojciech Garncarz, David Medgyesi, Tobias Schwerd, Betül Karaatmaca, Pınar Gur Cetinkaya, Saliha Esenboga, Stephen R F Twigg, Andrew Cant, Andrew O M Wilkie, Ilhan Tezcan, Holm H Uhlig, Kaan Boztug,

Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic mutation in <i>IL6ST</i> encoding the GP130 receptor subunit (p.N404Y) has very recently been identified in a singleton patient (herein ... Read more >>

Haematologica (Haematologica)
[2019, 104(3):609-621]

Cited: 6 times

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A Rare Cause of Secondary Immunodeficiency: Generalized Lymphatic Anomaly.

Saliha Esenboga, Deniz Çagdas, Berna Oguz, Inci Bajin, Burca Aydin, Canan Akyuz, Ilhan Tezcan,

J Pediatr Hematol Oncol (Journal of pediatric hematology/oncology)
[2018, 40(3):248-251]

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ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan,

INTRODUCTION:Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2018, 38(4):484-493]

Cited: 1 time

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Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome.

Rahsan Gocmen, Nazire Pinar Acar, Deniz Cagdas, Asli Kurne,

We, herein, report a 23-year-old male with a rare inherited immunodeficiency disease, hyperimmunoglobulin IgE syndrome (HIES), who developed progressive multifocal leukoencephalopathy (PML) and lymphoma simultaneously. Primary immunodeficiency of the patient has remained undiagnosed until adulthood. PML is a severe demyelinating disease of the central nervous system caused by John Cunningham ... Read more >>

J Neurovirol (Journal of neurovirology)
[2017, 23(4):632-636]

Cited: 1 time

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Diagnosis of Interstitial Lung Disease Caused by Possible Hypersensitivity Pneumonitis in a Child: Think CGD.

Saliha Esenboga, Nagehan Emiralioglu, Deniz Cagdas, Baran Erman, Martin De Boer, Berna Oguz, Nural Kiper, İlhan Tezcan,

Interstitial lung disease (ILD) is a rare and heterogeneous group of disorder affecting the lung parenchyma and has a detrimental effect on gas exchange. Chronic granulomatous disease (CGD), when it affects primarily lungs, may cause ILD. We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who ... Read more >>

J Clin Immunol (Journal of clinical immunology)
[2017, 37(3):269-272]

Cited: 4 times

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Low T Cell Numbers Resembling T-B+ SCID in a Patient with Wiskott-Aldrich Syndrome and the Outcome of Two Hematopoietic Stem Cell Transplantations.

Deniz Cagdas, Selin Aytac, Barış Kuskonmaz, Tadashi Ariga, Mirjam van der Burg, Duygu Uckan Cetinkaya, Özden Sanal, İlhan Tezcan,

J Clin Immunol (Journal of clinical immunology)
[2017, 37(1):18-21]

Cited: 0 times

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RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.

Elisabeth Salzer, Deniz Cagdas, Miroslav Hons, Emily M Mace, Wojciech Garncarz, Özlem Yüce Petronczki, René Platzer, Laurène Pfajfer, Ivan Bilic, Sol A Ban, Katharina L Willmann, Malini Mukherjee, Verena Supper, Hsiang Ting Hsu, Pinaki P Banerjee, Papiya Sinha, Fabienne McClanahan, Gerhard J Zlabinger, Winfried F Pickl, John G Gribben, Hannes Stockinger, Keiryn L Bennett, Johannes B Huppa, Loïc Dupré, Özden Sanal, Ulrich Jäger, Michael Sixt, Ilhan Tezcan, Jordan S Orange, Kaan Boztug,

RASGRP1 is an important guanine nucleotide exchange factor and activator of the RAS-MAPK pathway following T cell antigen receptor (TCR) signaling. The consequences of RASGRP1 mutations in humans are unknown. In a patient with recurrent bacterial and viral infections, born to healthy consanguineous parents, we used homozygosity mapping and exome ... Read more >>

Nat Immunol (Nature immunology)
[2016, 17(12):1352-1360]

Cited: 31 times

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