1. A novel Wiskott–Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura. (7th January 2013) Authors: Kawasaki, Yukako; Toyoda, Hidemi; Otsuki, Shoichiro; Iwasa, Tadashi; Iwamoto, Shotaro; Azuma, Eiichi; Itoh‐Habe, Naomi; Wada, Hideo; Fujimura, Yoshihiro; Morio, Tomohiro; Imai, Kohsuke; Mitsuiki, Noriko; Ohara, Osamu; Komada, Yoshihiro Journal: European journal of haematology Issue: Volume 90:Number 2(2013:Feb.) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A SAMD5–SASH1 fusion in solitary infantile myofibromatosis. Issue 6 (2nd March 2023) Authors: Yamashita, Motoi; Kuroha, Masae; Kinowawki, Yuko; Kashiwagi, Nao; Watanabe, Kotaro; Nagase, Mika; Niizato, Daiki; Mitsuiki, Noriko; Isoda, Takeshi; Kamiya, Takahiro; Arisaka, Atsuko; Inaji, Motoki; Ohashi, Kenichi; Imai, Kohsuke; Kanegane, Hirokazu; Morio, Tomohiro; Takagi, Masatoshi Journal: Pediatric blood & cancer Issue: Volume 70:Issue 6(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Allogeneic hematopoietic stem cell transplantation for Chediak–Higashi syndrome. (29th October 2015) Authors: Umeda, Katsutsugu; Adachi, Souichi; Horikoshi, Yasuo; Imai, Kohsuke; Terui, Kiminori; Endo, Mikiya; Mitsui, Tetsuo; Kato, Keisuke; Koh, Katsuyoshi; Kajiwara, Ryosuke; Ito, Rieko; Otsuka, Yoshitoshi; Inoue, Masami; Ishii, Eiichi; Yabe, Hiromasa Journal: Pediatric transplantation Issue: Volume 20:Number 2(2016:Mar.) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency. Issue 2 (March 2018) Authors: Horikoshi, Yasuo; Umeda, Katsutsugu; Imai, Kohsuke; Yabe, Hiromasa; Sasahara, Yoji; Watanabe, Kenichiro; Ozawa, Yukiyasu; Hashii, Yoshiko; Kurosawa, Hidemitsu; Nonoyama, Shigeaki; Morio, Tomohiro Journal: Journal of pediatric hematology/oncology Issue: Volume 40:Issue 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. Issue 1 (December 2016) Authors: Ikegame, Kazuhiro; Imai, Kohsuke; Yamashita, Motoi; Hoshino, Akihiro; Kanegane, Hirokazu; Morio, Tomohiro; Kaida, Katsuji; Inoue, Takayuki; Soma, Toshihiro; Tamaki, Hiroya; Okada, Masaya; Ogawa, Hiroyasu Journal: Journal of hematology & oncology Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa. (20th May 2022) Authors: Niwano, Tomoko; Hosoya, Tadashi; Kadowaki, Saori; Toyofuku, Etsushi; Naruto, Takuya; Shimizu, Masaki; Ohnishi, Hidenori; Koike, Ryuji; Morio, Tomohiro; Imai, Kohsuke; Yoshida, Masayuki; Yasuda, Shinsuke Journal: Rheumatology Issue: Volume 61:Number 11(2022) Page Start: e337 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report. Issue 11 (16th November 2021) Authors: Toyohara, Miwako; Kajiho, Yuko; Toyofuku, Etsushi; Takahashi, Chie; Owada, Keiho; Kanda, Shoichiro; Harita, Yutaka; Ohnishi, Hidenori; Wada, Taizo; Imai, Kohsuke; Kanegane, Hirokazu; Morio, Tomohiro; Oka, Akira Journal: Clinical case reports Issue: Volume 9:Issue 11(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Are naïve T cells and class-switched memory (IgD− CD27+) B cells not essential for establishment and maintenance of pregnancy? Insights from a case of common variable immunodeficiency with pregnancy. (December 2018) Authors: Shigeta, Naoya; Nakamura, Hitomi; Kumasawa, Keiichi; Imai, Kohsuke; Saito, Shigeru; Sakaguchi, Shimon; Kimura, Tadashi Journal: Medical hypotheses Issue: Volume 121(2018) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations. (30th June 2020) Authors: Sakata, Sonoko; Tsumura, Miyuki; Matsubayashi, Tadashi; Karakawa, Shuhei; Kimura, Shunsuke; Tamaura, Moe; Okano, Tsubasa; Naruto, Takuya; Mizoguchi, Yoko; Kagawa, Reiko; Nishimura, Shiho; Imai, Kohsuke; Le Voyer, Tom; Casanova, Jean-Laurent; Bustamante, Jacinta; Morio, Tomohiro; Ohara, Osamu; Kob... Journal: International immunology Issue: Volume 32:Number 10(2020) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9/SAMD9L Germline Mutation. Issue 2 (21st March 2023) Authors: Hirai, Maiko; Yagasaki, Hiroshi; Kanezawa, Koji; Ueno, Masaru; Shimozawa, Katsuyoshi; Imai, Kohsuke; Morio, Tomohiro; Kato, Motohiro; Gocho, Yoshihiro; Narumi, Satoshi; Ebihara, Yasuhiro; Morioka, Ichiro Journal: Journal of pediatric hematology/oncology Issue: Volume 45:Issue 2(2023) Page Start: e290 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗