A20 Haploinsufficiency in East Asia

por Tomonori Kadowaki, Tomonori Kadowaki, Saori Kadowaki, Hidenori Ohnishi, Hidenori Ohnishi
Publicado 2021

An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

por Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka
Publicado 2021

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

por Nobuo Kanazawa, Hiroaki Hemmi, Noriko Kinjo, Hidenori Ohnishi, Jun Hamazaki, Hiroyuki Mishima, Akira Kinoshita, Tsunehiro Mizushima, Satoru Hamada, Kazuya Hamada, Norio Kawamoto, Saori Kadowaki, Yoshitaka Honda, Kazushi Izawa, Ryuta Nishikomori, Miyuki Tsumura, Yusuke Yamashita, Shinobu Tamura, Takashi Orimo, Toshiya Ozasa, Takashi Kato, Izumi Sasaki, Yuri Fukuda-Ohta, Naoko Wakaki-Nishiyama, Yutaka Inaba, Kayo Kunimoto, Satoshi Okada, Takeshi Taketani, Koichi Nakanishi, Shigeo Murata, Koh-ichiro Yoshiura, Tsuneyasu Kaisho
Publicado 2021