Full Text Journal Articles by
Author Ilhan Tezcan

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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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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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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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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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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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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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Elevated Interleukin-17A expression in amlodipine-induced gingival overgrowth.

Siddika Selva Sume, Ezel Berker, Yagmur Ilarslan, Ozlem Ozer Yucel, Cagman Tan, Samir Goyushov, Sibel E Gultekin, Ilhan Tezcan,

<h4>Background and objectives</h4>Amlodipine, a calcium channel blocker derivative, is frequently used by patients with high blood pressure. Studies reported that it can induce gingival overgrowth. However, the underlying mechanism is not fully described yet. Interleukin-17A (IL-17A) is known as a proinflammatory cytokine, but current studies indicate that it has a ... Read more >>

J Periodontal Res (Journal of periodontal research)
[2020, 55(5):613-621]

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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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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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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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Levels of pro- and anti-inflammatory cytokines in cystic fibrosis patients with or without gingivitis.

Onurcem Duruel, Ezel Berker, Cansu Özşin-Özler, Mina Gharibzadeh-Hızal, Öznur Gürpınar, Sanem Eryılmaz-Polat, Emel Tuğba Ataman-Duruel, Çağman Tan, Erdem Karabulut, Meryem Tekçiçek, Özgen Köseoğlu Eser, Nural Kiper, İlhan Tezcan,

BACKGROUND:Inflammatory periodontal diseases are caused by interaction between gram negative, anaerobic bacteria and host response. Persistent infection of Pseudomonas aeruginosa in cystic fibrosis (CF) patients also cause increased pro-inflammatory response and the imbalance of pro- and anti-inflammatory response in brochoalveolar lavage fluid which leads to destruction of lungs. The aim ... Read more >>

Cytokine (Cytokine)
[2020, 127:154987]

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In case of recurrent wheezing and bronchiolitis: Think again, it may be a primary immunodeficiency.

Begum Ozbek, Deniz Çağdaş Ayvaz, Saliha Esenboga, Sevil Oskay Halaçlι, Elif Soyak Aytekin, Ismail Yaz, Çağman Tan, Ilhan Tezcan,

BACKGROUND:Wheezing, starting early in life, is a heterogeneous medical condition caused by airway obstruction due to different underlying mechanisms. Primary immunodeficiencies are also among the risk factors that cause wheezing and recurrent bronchiolitis. ADA deficiency is a primary immunodeficiency, also a rare metabolic disease associated with multisystemic clinical findings. OBJECTIVE:This ... Read more >>

Asian Pac J Allergy Immunol (Asian Pacific journal of allergy and immunology)
[2019, :]

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The value of flexible bronchoscopy in pulmonary infections of immunosuppressed children.

Nesibe Gevher Eroglu-Ertugrul, Ebru Yalcin, Berna Oguz, Turgay Ocal, Baris Kuskonmaz, Nagehan Emiralioglu, Deniz Dogru-Ersoz, Ugur Ozcelik, Ilhan Tezcan, Nural Kiper,

OBJECTIVES:To demonstrate the value of flexible bronchoscopy (FB) and bronchoalveolar lavage (BAL) when determining causes of lung infection in immunocompromised children; to investigate differences in causes and radiological features of lung infections following bone marrow transplantation (BMT) compared to other immunosuppressive conditions; to evaluate the reliability of radiological findings when ... Read more >>

Clin Respir J (The clinical respiratory journal)
[2020, 14(2):78-84]

Cited: 1 time

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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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A clinical score to guide in decision making for monogenic type I IFNopathies.

Hafize Emine Sönmez, Cagatay Karaaslan, Adriana A de Jesus, Ezgi Deniz Batu, Banu Anlar, Betül Sözeri, Yelda Bilginer, Dilara Karaguzel, Deniz Cagdas Ayvaz, Ilhan Tezcan, Raphaela Goldbach-Mansky, Seza Ozen,

<h4>Objective</h4>To develop a set of clinical criteria that identifies patients with a potential autoinflammatory IFNopathy.<h4>Methods</h4>Based on a literature review, a set of clinical criteria identifying genetically confirmed monogenic IFNopathies was selected. For validation, the clinical score was assessed in healthy controls (HCs) and 18 disease controls, including 2 known autoimmune ... Read more >>

Pediatr Res (Pediatric research)
[2020, 87(4):745-752]

Cited: 1 time

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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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A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

Seza Özen, Ezgi Deniz Batu, Ekim Z Taşkıran, Hatice Asuman Özkara, Şule Ünal, Naz Güleray, Abdulsamet Erden, Ömer Karadağ, Fatma Gümrük, Mualla Çetin, Hafize Emine Sönmez, Yelda Bilginer, Deniz Çağdaş Ayvaz, Ilhan Tezcan,

<h4>Objective</h4>Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with <i>ADA2</i> mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.<h4>Methods</h4>This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and ... Read more >>

J Rheumatol (The Journal of rheumatology)
[2020, 47(1):117-125]

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]

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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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Effects of oral prophylaxis including tongue cleaning on halitosis and gingival inflammation in gingivitis patients-a randomized controlled clinical trial.

Buket Acar, Ezel Berker, Çağman Tan, Yağmur D İlarslan, Meryem Tekçiçek, İlhan Tezcan,

<h4>Objective</h4>The objective of this study was to assess the effect of oral prophylaxis including tongue scraping on level of halitosis, clinical periodontal parameters and local cytokine response in gingivitis patients.<h4>Materials and methods</h4>In this randomized controlled clinical trial, 36 gingivitis patients were randomly assigned into two subgroups after scaling and polishing. ... Read more >>

Clin Oral Investig (Clinical oral investigations)
[2019, 23(4):1829-1836]

Cited: 3 times

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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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Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.

Saliha Esenboga, Can Akal, Betül Karaatmaca, Baran Erman, Sibel Dogan, Diclehan Orhan, Kaan Boztug, Deniz Ayvaz, İlhan Tezcan,

V(D)J recombination, during which recognition and repair of broken DNA chains are accomplished by non-homologous end joining pathway, is a critical process in B and T cell development.Null mutations of each enzyme or protein of this pathway result in T- B- NK+ severe combined immunodeficiency whereas hypomorphic mutations result in ... Read more >>

Clin Immunol (Clinical immunology (Orlando, Fla.))
[2018, 197:1-5]

Cited: 1 time

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