Search Results - "Cipe, Funda Erol"

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia by Cipe, Funda Erol, Aydogmus, Cigdem, Serwas, Nina K., Keskindemirci, Gonca, Boztuğ, Kaan

“…Purpose Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and…”
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Evaluation of allergic sensitization and gastroesophageal reflux disease in children with recurrent croup by Arslan, Zafer, Çipe, Funda Erol, Özmen, Serap, Kondolot, Meda, Piskin, I. Etem, Yöney, Aysel

“…Background:  Croup, which is seen commonly in childhood, is a disorder that can be recurrent and progress to bronchial asthma. In the present study the…”
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Cernunnos/XLF Deficiency : A Syndromic Primary Immunodeficiency by Çipe, Funda Erol, Aydoğmuş, Çiğdem, Babayigit Hocaoglu, Arzu, Kilic, Merve, Kaya, Gul Demet, Yilmaz Gulec, Elif

“…Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been…”
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PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects by Berland, Aurélie, Rosain, Jérémie, Kaltenbach, Sophie, Allain, Vincent, Mahlaoui, Nizar, Melki, Isabelle, Fievet, Alice, Dubois d'Enghien, Catherine, Ouachée-Chardin, Marie, Perrin, Laurence, Auger, Nathalie, Cipe, Funda Erol, Finocchi, Andrea, Dogu, Figen, Suarez, Felipe, Moshous, Despina, Leblanc, Thierry, Belot, Alexandre, Fieschi, Claire, Boutboul, David, Malphettes, Marion, Galicier, Lionel, Oksenhendler, Eric, Blanche, Stéphane, Fischer, Alain, Revy, Patrick, Stoppa-Lyonnet, Dominique, Picard, Capucine, de Villartay, Jean-Pierre

“…V(D)J recombination ensures the diversity of the adaptive immune system. Although its complete defect causes severe combined immunodeficiency (ie, T−B− severe…”
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Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency by Erman, Baran, Fırtına, Sinem, Fışgın, Tunc, Bozkurt, Ceyhun, Çipe, Funda Erol

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Primary immunodeficiencies: HSCT experiences of a single center in Turkey by Erol Cipe, Funda, Adakli Aksoy, Basak, Aydogdu, Selime, Dikme, Gurcan, Kiykim, Ayca, Aydogmus, Cigdem, Yucel, Esra, Bozkurt, Ceyhun, Fisgin, Tunc

“…Background Primary immunodeficiency diseases (PID) are characterized by the occurrence of frequent infections and are caused by many genetic defects…”
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Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature by Erman, Baran, Fırtına, Sinem, Aksoy, Başak Adaklı, Aydogdu, Selime, Genç, Gonca Erköse, Doğan, Öner, Bozkurt, Ceyhun, Fışgın, Tunç, Çipe, Funda Erol

“…Purpose Autosomal recessive (AR) CARD9 deficiency is an inherited immune disorder which results in impaired innate immunity against various fungi. Superficial…”
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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis by Yucel, Esra, Karakus, Ibrahim Serhat, Krolo, Ana, Kiykim, Ayca, Heredia, Raul Jimenez, Tamay, Zeynep, Cipe, Funda Erol, Karakoc-Aydiner, Elif, Ozen, Ahmet, Karaman, Serap, Boztug, Kaan, Baris, Safa

“…Purpose Recently, a new form of congenital neutropenia that is caused by germline biallelic loss-of-function mutations in the SMARCD2 gene was described in…”
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A rare case of syndromic severe congenital neutropenia: JAGN1 mutation by Çipe, Funda Erol, Aydoğmuş, Çiğdem, Baskın, Kübra, Keskindemirci, Gonca, Garncarz, Wojciech, Boztuğ, Kaan

“…Neutrophils are essential innate cells to fight bacterial and fungal pathogens. Jagunal homolog 1 (JAGN1) mutations were recently defined as rare genetic…”
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A Rare Clinical Finding in Ataxia Telangiectasia: Granulomatous Skin Lesion by Naiboğlu, Sezin, Ulaş, Selami, Turan, Işılay, Erol Çipe, Funda, Çalım Gürbüz, Begüm, Aydoğmuş, Çiğdem

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Immunodeficiency-Like Phenotype, Recurrent Pulmonary Manifestations, and Persistent Polyarthritis: Mevalonate Kinase Deficiency Successfully Treated With Adalimumab by Cakan, Mustafa, Ayaz, Nuray Aktay, Cipe, Funda Erol, Karadag, Serife Gul

“…Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder characterized by fever starting in early infancy, lasting for three to…”
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HLA-haploidentical transplantations for primary immunodeficiencies: A single-center experience by Cipe, Funda Erol, Dogu, Figen, Aytekin, Caner, Yuksek, Mutlu, Kendirli, Tanil, Yildiran, Alisan, Bozdogan, Gunseli, Karatas, Deniz, Reisli, Ismail, Dalva, Klara, Arpacı, Fikret, Ikinciogullari, Aydan

“…Cipe FE, Dogu F, Aytekin C, Yuksek M, Kendirli T, Yildiran A, Bozdogan G, Karatas D, Reisli I, Dalva K, Arpacı F, Ikinciogullari A. HLA‐haploidentical…”
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Late onset hemorrhagic cystitis in a hematopoietic stem cell recipient: Treatment with intravesical hyaluronic acid by Cipe, Funda Erol, Soygür, Tarkan, Doğu, Figen, Erdoğan, Ozdemir, Bozdoğan, Gunseli, Ikincioğullari, Aydan

“…Çipe Erol F, Soygür T, Doğu F, Erdoğan Ö, Bozdoğan G, İkincioğulları A. Late onset hemorrhagic cystitis in a hematopoietic stem cell recipient: Treatment with…”
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Asymptomatic catheter related Rhizobium radiobacter infection in a haploidentical hemapoetic stem cell recipient by Erol Cipe, Funda, Doğu, Figen, Sucuoğlu, Deniz, Aysev, Derya, Ikincioğulları, Aydan

“…Catheter related infections are reported as one of the most common source of nosocomial infections. Rhizobium radibacter infections are generally manifested by…”
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Inherited and acquired immunodeficiencies underlying tuberculosis in childhood by Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, El-Baghdadi, Jamila, Camcioglu, Yildiz, Parvaneh, Nima, El Azbaoui, Safaa, Agader, Aomar, Hassani, Amal, El Hafidi, Naima, Mrani, Nidal Alaoui, Jouhadi, Zineb, Ailal, Fatima, Najib, Jilali, Reisli, Ismail, Zamani, Adil, Yosunkaya, Sebnem, Gulle-Girit, Saniye, Yildiran, Alisan, Cipe, Funda Erol, Torun, Selda Hancerli, Metin, Ayse, Atikan, Basak Yildiz, Hatipoglu, Nevin, Aydogmus, Cigdem, Kilic, Sara Sebnem, Dogu, Figen, Karaca, Neslihan, Aksu, Guzide, Kutukculer, Necil, Keser-Emiroglu, Melike, Somer, Ayper, Tanir, Gonul, Aytekin, Caner, Adimi, Parisa, Mahdaviani, Seyed Alireza, Mamishi, Setareh, Bousfiha, Aziz, Sanal, Ozden, Mansouri, Davood, Casanova, Jean-Laurent, Abel, Laurent

“…Summary Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million…”
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Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants by Aykut, Ayca, Durmaz, Asude, Karaca, Neslihan, Gulez, Nesrin, Genel, Ferah, Celmeli, Fatih, Cogurlu, M. Tuba, Akcan, Mediha, Cicek, Dilek, Cipe, Funda Erol, Kiykim, Ayca, Yıldıran, Alisan, Unluhizarci, Kursad, Kilic, Sara Sebnem, Aksu, Guzide, Ardeniz, Omur, Kutukculer, Necil

“…Human Inborn Errors of Immunity (IEIs) encompass a clinically and genetically heterogeneous group of disorders, ranging from mild cases to severe,…”
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A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis by Kasap, Nurhan, Celik, Velat, Isik, Sakine, Cennetoglu, Pakize, Kiykim, Ayca, Eltan, Sevgi Bilgic, Nain, Ercan, Ogulur, Ismail, Baser, Dilek, Akkelle, Emre, Celiksoy, Mehmet Halil, Kocamis, Burcu, Cipe, Funda Erol, Yucelten, Ayse Deniz, Karakoc-Aydiner, Elif, Ozen, Ahmet, Baris, Safa

“…Hyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining…”
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Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes by Bayram, Ozlem, Haskologlu, Sule, Bayrakoğlu, Deniz, Bal, Sevgi Kostel, Islamoglu, Candan, Cipe, Funda Erol, Kendirli, Tanil, Kursun, Nazmiye, Guner, Sukru Nail, Yildiran, Alisan, Bozdogan, Gunseli, Yuksek, Mutlu, Reisli, Ismail, Dalva, Klara, Aytekin, Caner, Boztug, Kaan, Dogu, Figen, Ikinciogullari, Aydan

“…Severe combined immunodeficiency is an inborn error of immunity characterized by impairments in the numbers and functions of T and B lymphocytes due to various…”
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Cyclic manner of neutropenia in a patient with HAX-1 mutation by Cipe, Funda Erol, Celiksoy, Mehmet Halil, Erturk, Biray, Aydogmus, Çiğdem

“…Introduction: Severe congenital neutropenia (SCN) includes a group of genetic disorders which cause to arrest of neutrophil maturation. SCN can be associated…”
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Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect by Khodzhaev, Khusan, Bay, Sema Buyukkapu, Kebudi, Rejin, Altindirek, Didem, Kaya, Aysenur, Erbilgin, Yucel, Ng, Ozden Hatirnaz, Kiykim, Ayca, Erol, Funda Cipe, Zengin, Feride Sen, Firtina, Sinem, Ng, Yuk Yin, Aksoy, Basak Adakli, Sayitoglu, Muge

“…Genome-wide sequencing studies in pediatric cancer cohorts indicate that about 10% of patients have germline mutations within cancer predisposition genes…”
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