Tamaki Kato    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Assistant Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.
Journal	Formal name：The Journal of allergy and clinical immunology Abbreviation：J Allergy Clin Immunol ISSN code：10976825/00916749
Domestic / Foregin	Foregin
Volume, Issue, Page	143(1),pp.266-275
Author and coauthor	Okano Tsubasa, Imai Kohsuke, Tsujita Yuki, Mitsuiki Noriko, Yoshida Kenichi, Kamae Chikako, Honma Kenichi, Mitsui-Sekinaka Kanako, Sekinaka Yujin, Kato Tamaki, Hanabusa Katsuyuki, Endo Eri, Takashima Takehiro, Hiroki Haruka, Yeh Tzu-Wen, Tanaka Keisuke, Nagahori Masakazu, Tsuge Ikuya, Bando Yuki, Iwasaki Fuminori, Shikama Yoshiaki, Inoue Masami, Kimoto Tomiko, Moriguchi Naohiko, Yuza Yuki, Kaneko Takashi, Suzuki Kyoko, Matsubara Tomoyo, Maruo Yoshihiro, Kunitsu Tomoaki, Waragai Tomoko, Sano Hideki, Hashimoto Yuko, Tasaki Kazuhiro, Suzuki Osamu, Shirakawa Toshihiko, Kato Motohiro, Uchiyama Toru, Ishimura Masataka, Tauchi Tetsuzo, Yagasaki Hiroshi, Jou Shiann-Tarng, Yu Hsin-Hui, Kanegane Hirokazu, Kracker Sven, Durandy Anne, Kojima Daiei, Muramatsu Hideki, Wada Taizo, Inoue Yuzaburo, Takada Hidetoshi, Kojima Seiji, Ogawa Seishi, Ohara Osamu, Nonoyama Shigeaki, Morio Tomohiro
Publication date	2019/01
Summary	BACKGROUND:Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory tract infections, lymphoid hyperplasia, and Herpesviridae infections caused by germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (HSCT) can be considered to ameliorate progressive immunodeficiency and associated malignancy, but appropriate indications, methods, and outcomes of HSCT for APDS1 remain undefined.OBJECTIVE:Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT.METHODS:We reviewed retrospectively the medical records of cohorts undergoing HSCT at collaborating facilities.RESULTS:Thirty-year overall survival was 86.1%, but event-free survival was 39.6%. Life-threatening events, such as severe infections or lymphoproliferation, were frequent in childhood and adolescence and were common indications for HSCT. Nine patients underwent HSCT with fludarabine-based reduced-intensity conditioning. Seven patients survived after frequent adverse complications and engraftment failure. Most symptoms improved after HSCT.CONCLUSION:Patients with APDS1 showed variable clinical manifestations. Life-threatening progressive combined immunodeficiency and massive lymphoproliferation were common indications for HSCT. Fludarabine-based reduced-intensity conditioning-HSCT ameliorated clinical symptoms, but transplantation-related complications were frequent, including graft failure.
DOI	10.1016/j.jaci.2018.04.032
PMID	29778502