Search Results - "Bendahmane, Chafa"

Diagnostic and Predictive Contribution of Autoantibodies Screening in a Large Series of Patients With Primary Immunodeficiencies by Tahiat, Azzeddine, Yagoubi, Abdelghani, Ladj, Mohamed Samir, Belbouab, Reda, Aggoune, Samira, Atek, Laziz, Bouziane, Djamila, Melzi, Souhila, Boubidi, Chahinez, Drali, Warda, Bendahmane, Chafa, Iguerguesdaoune, Hamza, Taguemount, Sihem, Soufane, Asma, Oukil, Asma, Ketfi, Abdalbasset, Messaoudi, Hassen, Boukhenfouf, Nadia, Ifri, Mohamed Amine, Bencharif Madani, Tahar, Belhadj, Hayet, Benhala, Keltoum Nafissa, Khiari, Mokhtar, Cherif, Nacera, Smati, Leila, Arada, Zakia, Zeroual, Zoulikha, Bouzerar, Zair, Ibsaine, Ouardia, Maouche, Hachemi, Boukari, Rachida, Djenouhat, Kamel

“…To evaluate the diagnostic and predictive contribution of autoantibodies screening in patients with primary immunodeficiencies (PIDs). In the present study,…”
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F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects by Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tomas, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G., Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D., Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D.

“…P1 was homozygous for a splice-site mutation (c.120-1G>C) at the acceptor splice site of intron 5, which was predicted to result in exon 6 skipping. Because no…”
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F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in humans by Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tom, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G., Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D., Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D.

“…FCHO1 deficiency is a novel autosomal recessive combined immune deficiency with impaired clathrin-mediated endocytosis…”
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F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects by Calzoni, Enrica, Platt, Craig D, Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tomas, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G, Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D, Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S, Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D

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