Search Results - "Celmeli, Fatih"

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots by la Marca, Giancarlo, PharmSc, Canessa, Clementina, MD, Giocaliere, Elisa, BSc, Romano, Francesca, BSc, Malvagia, Sabrina, BSc, Funghini, Silvia, PhD, Moriondo, Maria, BSc, Valleriani, Claudia, BSc, Lippi, Francesca, MD, Ombrone, Daniela, BSc, Della Bona, Maria Luisa, PharmSc, Speckmann, Carsten, MD, Borte, Stephan, MD, Brodszki, Nicholas, MD, Gennery, Andrew R., MD, Weinacht, Katja, Celmeli, Fatih, MD, Pagel, Julia, MD, de Martino, Maurizio, MD, Guerrini, Renzo, MD, Wittkowski, Helmut, MD, Santisteban, Ines, PhD, Bali, Pawan, PhD, Ikinciogullari, Aydan, MD, Hershfield, Michael, MD, Notarangelo, Luigi D., MD, Resti, Massimo, MD, Azzari, Chiara, MD

“…Background Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect…”
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CARD9 Mutation in a Patient with Candida albicans Meningoencephalitis; A Case Report by Kuruoğlu, Tuba, Çelik, Merve, Çelmeli, Fatih, Tanyel, Esra

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Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis by Frede, Natalie, Rojas-Restrepo, Jessica, Caballero Garcia de Oteyza, Andrés, Buchta, Mary, Hübscher, Katrin, Gámez-Díaz, Laura, Proietti, Michele, Saghafi, Shiva, Chavoshzadeh, Zahra, Soler-Palacin, Pere, Galal, Nermeen, Adeli, Mehdi, Aldave-Becerra, Juan Carlos, Al-Ddafari, Moudjahed Saleh, Ardenyz, Ömür, Atkinson, T. Prescott, Kut, Fulya Bektas, Çelmeli, Fatih, Rees, Helen, Kilic, Sara S., Kirovski, Ilija, Klein, Christoph, Kobbe, Robin, Korganow, Anne-Sophie, Lilic, Desa, Lunt, Peter, Makwana, Niten, Metin, Ayse, Özgür, Tuba Turul, Karakas, Ayse Akman, Seneviratne, Suranjith, Sherkat, Roya, Sousa, Ana Berta, Unal, Ekrem, Patiroglu, Turkan, Wahn, Volker, von Bernuth, Horst, Whiteford, Margo, Doffinger, Rainer, Jouhadi, Zineb, Grimbacher, Bodo

“…Hyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent…”
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Inborn Errors of Immunity in Pediatric Intensive Care: Prevalence, Characteristics, and Prognosis by Celmeli, Fatih, Oz, Ayse, Kihtir, Hasan Serdar, Ongun, Ebru Atike, Tekmenuray-Unal, Aysel, Ceylaner, Serdar, Aykut, Ayca, Aydin, Sultan, Baris, Safa

“…Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases characterized by impaired immune system function. This prospective study aimed to…”
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Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency by Celmeli, Fatih, Oztoprak, Nefise, Turkkahraman, Doga, Seyman, Derya, Mutlu, Esvet, Frede, Natalie, Köksoy, Sadi, Grimbacher, Bodo

“…Caspase-associated recruitment domain-9 (CARD9) deficiency is an autosomal-recessive primary immunodeficiency with genetic defects in Th17 immunity marked by…”
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Hematopoietic stem cell transplantation in CD40 ligand deficiency: A single‐center experience by Uygun, Dilara Fatma Kocacık, Uygun, Vedat, Karasu, Gülsün Tezcan, Daloğlu, Hayriye, Öztürkmen, Seda Irmak, Çelmeli, Fatih, Törün, Selda Hançerli, Özen, Ahmet, Barış, Safa, Aydıner, Elif Karakoç, Yalçın, Koray, Kılıç, Suar Çakı, Hazar, Volkan, Bingöl, Ayşen, Yeşilipek, Akif

“…Deficiency of the CD40L, expressed on the surface of T lymphocytes, is caused by mutations in the glycoprotein CD40L (CD154) gene. Resulting defective humoral…”
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Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency by Lévy, Romain, Okada, Satoshi, Béziat, Vivien, Moriya, Kunihiko, Liu, Caini, Chai, Louis Yi Ann, Migaud, Mélanie, Hauck, Fabian, Ali, Amein Al, Cyrus, Cyril, Vatte, Chittibabu, Patiroglu, Turkan, Unal, Ekrem, Ferneiny, Marie, Hyakuna, Nobuyuki, Nepesov, Serdar, Oleastro, Matias, Ikinciogullari, Aydan, Dogu, Figen, Asano, Takaki, Ohara, Osamu, Yun, Ling, Mina, Erika Della, Bronnimann, Didier, Itan, Yuval, Gothe, Florian, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Tahuil, Natalia, Aytekin, Caner, Salhi, Aicha, Muhsen, Saleh Al, Kobayashi, Masao, Toubiana, Julie, Abel, Laurent, Li, Xiaoxia, Camcioglu, Yildiz, Celmeli, Fatih, Klein, Christoph, AlKhater, Suzan A., Casanova, Jean-Laurent, Puel, Anne

“…Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The…”
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A sensitive assay for measuring whole-blood responses to type I IFNs by Gervais, Adrian, Le Floc'h, Corentin, Le Voyer, Tom, Bizien, Lucy, Bohlen, Jonathan, Celmeli, Fatih, Al Qureshah, Fahd, Masson, Cécile, Rosain, Jérémie, Chbihi, Marwa, Lévy, Romain, Castagnoli, Riccardo, Rothenbuhler, Anya, Jouanguy, Emmanuelle, Zhang, Qian, Zhang, Shen-Ying, Béziat, Vivien, Bustamante, Jacinta, Puel, Anne, Bastard, Paul, Casanova, Jean-Laurent

“…Human inborn errors of the type I IFN response pathway and auto-Abs neutralizing IFN-α, -β, and/or -ω can underlie severe viral illnesses. We report a simple…”
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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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Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance by Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N, Li, Juan, Lei, Wei-Te, Pelham, Simon J, Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila E I, Fadil, Ilham, Bousfiha, Aziz, Habib, Tanwir, Marr, Nico, Ganeshanandan, Luckshman, Peake, Jane, Droney, Luke, Williams, Andrew, Celmeli, Fatih, Hatipoglu, Nevin, Ozcelik, Tayfun, Picard, Capucine, Abel, Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, Boisson, Bertrand

“…Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have…”
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Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants by Aykut, Ayca, Durmaz, Asude, Karaca, Neslihan, Gulez, Nesrin, Genel, Ferah, Celmeli, Fatih, Ozturk, Gulyuz, Atay, Didem, Aydogmus, Cigdem, Kiykim, Ayca, Aksu, Guzide, Kutukculer, Necil

“…Human Inborn Errors of Immunity (IEIs) are clinically and genetically heterogeneous group of diseases, with relatively mild clinical course or severe types…”
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CTLA-4 (+49A/G) polymorphism and type-1 diabetes in Turkish children by Çelmeli, Fatih, Türkkahraman, Doğa, Özel, Deniz, Akçurin, Sema, Yegin, Olcay

“…To evaluate the contribution of cytotoxic T-Iymphocyte antigen-4(CTLA-4)+49A/G polymorphism to the susceptibility to type-1 diabetes (T1D) in Turkish children…”
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Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency by Taghizade, Nigar, Babayeva, Royala, Kara, Altan, Karakus, Ibrahim Serhat, Catak, Mehmet Cihangir, Bulutoglu, Alper, Haskologlu, Zehra Sule, Akay Haci, Idil, Tunakan Dalgic, Ceyda, Karabiber, Esra, Bilgic Eltan, Sevgi, Yorgun Altunbas, Melek, Sefer, Asena Pinar, Sezer, Ahmet, Kokcu Karadag, Sefika Ilknur, Arik, Elif, Karali, Zuhal, Ozhan Kont, Aylin, Tuzer, Can, Karaman, Sait, Mersin, Selver Seda, Kasap, Nurhan, Celik, Enes, Kocacik Uygun, Dilara Fatma, Aydemir, Sezin, Kiykim, Ayca, Aydogmus, Cigdem, Ozek Yucel, Esra, Celmeli, Fatih, Karatay, Emrah, Bozkurtlar, Emine, Demir, Semra, Metin, Ayse, Karaca, Neslihan Edeer, Kutukculer, Necil, Aksu, Guzide, Guner, Sukru Nail, Keles, Sevgi, Reisli, Ismail, Kendir Demirkol, Yasemin, Arikoglu, Tugba, Gulez, Nesrin, Genel, Ferah, Kilic, Sara Sebnem, Aytekin, Caner, Keskin, Ozlem, Yildiran, Alisan, Ozcan, Dilek, Altintas, Derya Ufuk, Ardeniz, Fatma Omur, Dogu, Esin Figen, Ikinciogullari, Kamile Aydan, Karakoc-Aydiner, Elif, Ozen, Ahmet, Baris, Safa

“…LPS-responsive beige-like anchor (LRBA) deficiency (LRBA ) and cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) insufficiency (CTLA4 ) are mechanistically…”
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Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye by Erman, Baran, Aba, Umran, Ipsir, Canberk, Pehlivan, Damla, Aytekin, Caner, Cildir, Gokhan, Cicek, Begum, Bozkurt, Ceren, Tekeoglu, Sidem, Kaya, Melisa, Aydogmus, Cigdem, Cipe, Funda, Sucak, Gulsan, Eltan, Sevgi Bilgic, Ozen, Ahmet, Barıs, Safa, Karakoc-Aydiner, Elif, Kıykım, Ayca, Karaatmaca, Betul, Kose, Hulya, Uygun, Dilara Fatma Kocacık, Celmeli, Fatih, Arikoglu, Tugba, Ozcan, Dilek, Keskin, Ozlem, Arık, Elif, Aytekin, Elif Soyak, Cesur, Mahmut, Kucukosmanoglu, Ercan, Kılıc, Mehmet, Yuksek, Mutlu, Bıcakcı, Zafer, Esenboga, Saliha, Ayvaz, Deniz Çagdaş, Sefer, Asena Pınar, Guner, Sukrü Nail, Keles, Sevgi, Reisli, Ismail, Musabak, Ugur, Demirbas, Nazlı Deveci, Haskologlu, Sule, Kilic, Sara Sebnem, Metin, Ayse, Dogu, Figen, Ikinciogulları, Aydan, Tezcan, Ilhan

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Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency by Catak, Mehmet C., Akcam, Bengu, Bilgic Eltan, Sevgi, Babayeva, Royala, Karakus, Ibrahim S., Akgun, Gamze, Baser, Dilek, Bulutoglu, Alper, Bayram, Feyza, Kasap, Nurhan, Kiykim, Ayca, Hancioglu, Gonca, Kokcu Karadag, Sefika I., kendir Demirkol, Yasemin, Ozen, Selime, Cekic, Sukru, Ozcan, Dilek, Edeer Karaca, Neslihan, Sasihuseyinoglu, Ayse S., Cansever, Murat, Ozek Yucel, Esra, Tamay, Zeynep, Altintas, Derya U., Aydogmus, Cigdem, Celmeli, Fatih, Cokugras, Haluk, Gulez, Nesrin, Genel, Ferah, Metin, Ayse, Guner, Sukru N., Kutukculer, Necil, Keles, Sevgi, Reisli, Ismail, Kilic, Sara S., Yildiran, Alisan, Karakoc‐Aydiner, Elif, Lo, Bernice, Ozen, Ahmet, Baris, Safa

“…Background Lipopolysaccharide‐responsive beige‐like anchor protein (LRBA) deficiency and cytotoxic T‐lymphocyte protein‐4 (CTLA‐4) insufficiency are recently…”
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Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye by Erman, Baran, Aba, Umran, Ipsir, Canberk, Pehlivan, Damla, Aytekin, Caner, Cildir, Gökhan, Cicek, Begum, Bozkurt, Ceren, Tekeoglu, Sidem, Kaya, Melisa, Aydogmus, Cigdem, Cipe, Funda, Sucak, Gulsan, Eltan, Sevgi Bilgic, Ozen, Ahmet, Barıs, Safa, Karakoc-Aydiner, Elif, Kıykım, Ayca, Karaatmaca, Betul, Kose, Hulya, Uygun, Dilara Fatma Kocacık, Celmeli, Fatih, Arikoglu, Tugba, Ozcan, Dilek, Keskin, Ozlem, Arık, Elif, Aytekin, Elif Soyak, Cesur, Mahmut, Kucukosmanoglu, Ercan, Kılıc, Mehmet, Yuksek, Mutlu, Bıcakcı, Zafer, Esenboga, Saliha, Ayvaz, Deniz Çagdaş, Sefer, Asena Pınar, Guner, Sukrü Nail, Keles, Sevgi, Reisli, Ismail, Musabak, Ugur, Demirbas, Nazlı Deveci, Haskologlu, Sule, Kilic, Sara Sebnem, Metin, Ayse, Dogu, Figen, Ikinciogulları, Aydan, Tezcan, Ilhan

“…Molecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients’ long-term prognosis, treatment options, and genetic…”
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Inherited human RelB deficiency impairs innate and adaptive immunity to infection by Le Voyer, Tom, Maglorius Renkilaraj, Majistor Raj Luxman, Moriya, Kunihiko, Pérez Lorenzo, Malena, Nguyen, Tina, Gao, Liwei, Rubin, Tamar, Cederholm, Axel, Ogishi, Masato, Arango-Franco, Carlos A, Béziat, Vivien, Lévy, Romain, Migaud, Mélanie, Rapaport, Franck, Itan, Yuval, Deenick, Elissa K, Cortese, Irene, Lisco, Andrea, Boztug, Kaan, Abel, Laurent, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Frosk, Patrick, Ma, Cindy S, Landegren, Nils, Celmeli, Fatih, Casanova, Jean-Laurent, Tangye, Stuart G, Puel, Anne

“…We report two unrelated adults with homozygous (P1) or compound heterozygous (P2) private loss-of-function variants of V-Rel Reticuloendotheliosis Viral…”
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A successful unrelated peripheral blood stem cell transplantation with reduced intensity‐conditioning regimen in a patient with late‐onset purine nucleoside phosphorylase deficiency by Celmeli, Fatih, Turkkahraman, Doga, Uygun, Vedat, Marca, Giancarlo, Hershfield, Michael, Yesilipek, Akif

“…PNP deficiency is a rare combined immunodeficiency with autosomal recessive mode of inheritance. The immunodeficiency is progressive with normal immune…”
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Late-Onset Congenital Diaphragmatic Hernia; Report of Three Cases by Çelmeli, Fatih, Palancı, Atiye Nil, Şahin, Murat, Saz, Eylem Ulaş, Türkkahraman, Doğa

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Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome by Celmeli, Fatih, Kocabas, Abdullah, Isik, Ishak A, Parlak, Mesut, Kisand, Kai, Ceylaner, Serdar, Turkkahraman, Doga

“…Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by…”
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