Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Shimaa Said Mohamed Ali Abdrabou"'
Autor:
Zineb Sbihi, Kay Tanita, Camille Bachelet, Christine Bole, Fabienne Jabot-Hanin, Frederic Tores, Marc Le Loch, Radi Khodr, Akihiro Hoshino, Christelle Lenoir, Matias Oleastro, Mariana Villa, Lucia Spossito, Emma Prieto, Silvia Danielian, Erika Brunet, Capucine Picard, Takashi Taga, Shimaa Said Mohamed Ali Abdrabou, Takeshi Isoda, Masafumi Yamada, Alejandro Palma, Hirokazu Kanegane, Sylvain Latour
Publikováno v:
Journal of Clinical Immunology
Journal of Clinical Immunology, 2022, 42 (3), pp.559-571. ⟨10.1007/s10875-021-01188-z⟩
Journal of Clinical Immunology, 2022, 42 (3), pp.559-571. ⟨10.1007/s10875-021-01188-z⟩
International audience; PurposeX-linked inhibitor of apoptosis protein (XIAP) deficiency, also known as the X-linked lymphoproliferative syndrome of type 2 (XLP-2), is a rare immunodeficiency characterized by recurrent hemophagocytic lymphohistiocyto
Autor:
Yusuke Tozawa, Shin Ichihara, Michiko Takahashi, Atsushi Manabe, Osamu Ohara, Nariaki Toita, Shimaa Said Mohamed Ali Abdrabou, Shin-ichi Fujiwara, Masafumi Yamada, Mutsuko Konno, Toshifumi Ashida, Tadashi Ariga
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 64(1)
X-linked inhibitor of apoptosis protein (XIAP) deficiency is one of inborn errors of immunity characterized by recurrent hemophagocytic lymphohistiocytosis and refractory inflammatory bowel disease (IBD), mimicking Crohn's disease. The aim of this st
Autor:
Kohsuke Imai, Tadashi Ariga, Ryoji Kobayashi, Kenji Kishimoto, Masafumi Yamada, Osamu Ohara, Yusuke Tozawa, Natsuko Nogawa-Chida, Ritsuo Nishiuchi, Shimaa Said Mohamed Ali Abdrabou, Hideki Sano, Yuichi Suzuki, Kunihiko Kobayashi, Toshiaki Ishida, Takuya Naruto
Publikováno v:
Clinical Immunology. 208:108256
Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT). HFM patients present with various clinical features including megaloblastic anemia, thromboc
Autor:
Yusuke Tozawa, Masariho Ueki, Mutsuko Konno, Nariaki Toita, Shimaa Said Mohamed Ali Abdrabou, Shunichiro Takasaki, Michiko Takahashi, Masafumi Yamada, Hirokazu Kanegane, Tadashi Ariga, Akiyoshi Kamada, Shin-ichi Fujiwara
Publikováno v:
Gastroenterology. 156:S-659
Autor:
M Konno, S-i Fujiwara, Hirokazu Kanegane, A Kamada, Masahiro Ueki, N Toita, Tadashi Ariga, M Takahashi, Shimaa Said Mohamed Ali Abdrabou, Shunichiro Takezaki, Yusuke Tozawa, Masafumi Yamada
Publikováno v:
Journal of Crohn's and Colitis. 13:S529-S529
Autor:
Yusuke Tozawa, Yuho Horikoshi, Kenta Ito, Masahiro Ueki, Ichiro Kobayashi, Shunichiro Takezaki, Shimaa Said Mohamed Ali Abdrabou, Saeko Morino, Masafumi Yamada, Hidetoshi Takada, Tadashi Ariga
Publikováno v:
Clinical immunology (Orlando, Fla.). 174
Heterozygous dominant-negative mutations of STAT1 are responsible for autosomal-dominant Mendelian susceptibility to mycobacterial diseases (AD-MSMD). So far, only 7 mutations have been previously described and are localized to 3 domains: the DNA-bin