Search Results - "Celmeli, F"

Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease by Köker, M. Y., Van Leeuwen, K., De Boer, M., Çelmeli, F., Metin, A., Özgür, T. T., Tezcan, İ., Sanal, Ö., Roos, D.

“…Background  One of the rarest forms of autosomal recessive chronic granulomatous disease (AR‐CGD) is attributable to mutations in the CYBA gene, which encodes…”
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Selective IgM deficiency in a boy with ring chromosome 18 by Celmeli, F, Turkkahraman, D, Cetin, Z, Mihci, E, Yegin, O

“…The incidence of chromosome 18 deletion syndrome is about 1 per 40 000 live births, and 18q- is one of the most common autosomal deletion syndromes in humans…”
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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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Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency by Le Voyer, T, Parent, AV, Liu, X, Gervais, A, Nguyen, T, Lorenzo, MP, Rackaityte, E, Zhang, P, Bizien, L, Hancioglu, G, Gueye, MS, Renkilaraj, MRLM, Ogishi, M, Soudee, C, Migaud, M, Rozenberg, F, Momenilandi, M, Riller, Q, Imberti, L, Delmonte, OM, Muller, G, Keller, B, Orrego, J, Gallego, WAF, Rubin, T, Emiroglu, M, Parvaneh, N, Eriksson, D, Aranda-Guillen, M, Vong, L, Katelaris, CH, Mustillo, P, Raedler, J, Bohlen, J, Celik, JB, Astudillo, C, Guffroy, A, DeRisi, JL, Miller, C, Guichard, A, Pan-Hammarstrom, Q, Zhang, Y, Rosen, LB, Holland, SM, Bosticardo, M, Kenney, H, Slade, CA, Abraham, RS, Lougaris, V, Hauck, F, Sediva, A, Poli, MC, Palterer, B, Keller, MD, Sullivan, A, Suan, D, Wong, M, Ma, C, Ciznar, P, Aladjidi, N, Hie, M, Lazaro, E, Franco, J, Keles, S, Malphettes, M, Meinhardt, A, Ikinciogullari, A, Shahrooei, M, Celmeli, F, Goodnow, CC, Gray, PE, Belot, A, Kuehn, HS, Rosenzweig, SD, Miyara, M, Licciardi, F, Barlogis, V, Le Guenno, G, Kuijpers, T, Ducoux, G, Sarrot-Reynauld, F, Cunningham-Rundles, C, Rieux-Laucat, F, Tangye, SG, Sobacchi, C, Doffinger, R, Grimbacher, B, Fieschi, C, Bryant, VL, Assant, ST, Su, H, Neven, B, Abel, L, Zhang, Q, Boisson, B, Cobat, A, Kampe, O, Landegren, N, Notarangelo, LD, Puel, A

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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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