1-6 of 6
Tomoki Kawai
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Clinical Trials & Observations
Ottavia M. Delmonte, Jenna R. E. Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese, Michael T. Zimmermann, A. Kerry Dobbs, Marita Bosticardo, Danielle Fink, Shamik Majumdar, Boaz Palterer, Francesca Pala, Nikita R. Dsouza, Marie Pouzolles, Naomi Taylor, Katherine R. Calvo, Stephen R. Daley, Daniel Velez, Anahita Agharahimi, Katherine Myint-Hpu, Lesia K. Dropulic, Jonathan J. Lyons, Steven M. Holland, Alexandra F. Freeman, Rajarshi Ghosh, Morgan B. Similuk, Julie E. Niemela, Jennifer Stoddard, Douglas B. Kuhns, Raul Urrutia, Sergio D. Rosenzweig, Magdalena A. Walkiewicz, Philip M. Murphy, Luigi D. Notarangelo
Journal: Blood
Blood (2021) 138 (12): 1019–1033.
https://doi.org/10.1182/blood.2020008629
Published: 2021
Includes: Supplemental data
Journal Articles

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis

Clinical Trials & Observations
Hirofumi Shibata, Takahiro Yasumi, Saeko Shimodera, Eitaro Hiejima, Kazushi Izawa, Tomoki Kawai, Ryutaro Shirakawa, Taizo Wada, Ryuta Nishikomori, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, Toshio Heike
Journal: Blood
Blood (2018) 131 (18): 2016–2025.
https://doi.org/10.1182/blood-2017-10-812503
Published: 2018
Includes: Supplemental data
Journal Articles

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Tomoki Kawai, Ryuta Nishikomori, Kazushi Izawa, Yuuki Murata, Naoko Tanaka, Hidemasa Sakai, Megumu Saito, Takahiro Yasumi, Yuki Takaoka, Tatsutoshi Nakahata, Tomoyuki Mizukami, Hiroyuki Nunoi, Yuki Kiyohara, Atsushi Yoden, Takuji Murata, Shinya Sasaki, Etsuro Ito, Hiroshi Akutagawa, Toshinao Kawai, Chihaya Imai, Satoshi Okada, Masao Kobayashi, Toshio Heike
Journal: Blood
Blood (2012) 119 (23): 5458–5466.
https://doi.org/10.1182/blood-2011-05-354167
Published: 2012
Includes: Supplemental data
Journal Articles

Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein

Clinical Trials & Observations
Yuuki Murata, Takahiro Yasumi, Ryutaro Shirakawa, Kazushi Izawa, Hidemasa Sakai, Junya Abe, Naoko Tanaka, Tomoki Kawai, Koichi Oshima, Megumu Saito, Ryuta Nishikomori, Osamu Ohara, Eiichi Ishii, Tatsutoshi Nakahata, Hisanori Horiuchi, Toshio Heike
Journal: Blood
Blood (2011) 118 (5): 1225–1230.
https://doi.org/10.1182/blood-2011-01-329540
Published: 2011
Includes: Supplemental data
Journal Articles

Decreased Expression In NF-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes Ectodermal Dysplasia with Immunodeficiency

Shuhei Karakawa, M.D, Satoshi Okada, MD, Miyuki Tsumura, BSc, Yoko Mizoguchi, MD, Norioki Ohno, MD, Shin'ichiro Yasunaga, MD, Motoaki Ohtsubo, PhD, Tomoki Kawai, MD, Ryuta Nishikomori, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD
Journal: Blood
Blood (2010) 116 (21): 1732.
https://doi.org/10.1182/blood.V116.21.1732.1732
Published: 2010
Journal Articles

A Novel Splicing Mutation in NEMO Gene in a Patient with X-Linked Ectodermal Dysplasia with Immunodeficiency.

Syuhei Karakawa, MD, Satoshi Okada, MD, Miyuki Tsumura, MA, Yoko Mizoguchi, MD, Tomoki Kawai, MD, Ryota Nishikomori, MD, Shin'ichiro Yasunaga, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD, PhD
Journal: Blood
Blood (2009) 114 (22): 2665.
https://doi.org/10.1182/blood.V114.22.2665.2665
Published: 2009