A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases

Autor: Ueki, Masahiro, Yamada, Masafumi, Ito, Kenta, Tozawa, Yusuke, Morino, Saeko, Horikoshi, Yuho, Takada, Hidetoshi, Abdrabou, Shimaa Said Mohamed Ali, Takezaki, Shunichiro, Kobayashi, Ichiro, Ariga, Tadashi

Publikováno v: In Clinical Immunology January 2017 174:24-31

XIAP欠損症の診断と内視鏡所見の特徴に関する研究

Autor: ABDRABOU, Shimaa Said Mohamed Ali

配架番号：2667
(主査) 教授 坂本 直哉, 教授 清野 研一郎, 准教授 外丸 詩野
医学院（医学専攻）

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::42d36c6f0509fe93d7897c92aeea06dd
http://hdl.handle.net/2115/85954

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG.

Autor: Ueki M; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Hirabayashi S; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Honda Y; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Takezaki S; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Ohata H; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Abdrabou SSMA; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Sawai S; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Terashita Y; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Cho Y; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., Izawa K; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Takahashi Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., Yamada M; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.; Department of Food and Human Wellness, Rakuno Gakuen University, Ebetsu, Japan., Manabe A; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.

Publikováno v: Immunological medicine [Immunol Med] 2024 Nov 01, pp. 1-8. Date of Electronic Publication: 2024 Nov 01.