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Journal Articles

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Tanja C. Vallée, Jannik S. Glasmacher, Hannes Buchner, Peter D. Arkwright, Uta Behrends, Anastasia Bondarenko, Michael J. Browning, David Buchbinder, Alessandro Cattoni, Liudmyla Chernyshova, Peter Ciznar, Theresa Cole, Wojciech Czogała, Gregor Dueckers, John David M. Edgar, Fatih Erbey, Anders Fasth, Francesca Ferrua, Renata Formankova, Eleonora Gambineri, Andrew R. Gennery, Frederick D. Goldman, Luis I. Gonzalez-Granado, Carsten Heilmann, Tarja Heiskanen-Kosma, Hanna Juntti, Leena Kainulainen, Hirokazu Kanegane, Neslihan E. Karaca, Sara S. Kilic, Christoph Klein, Sylwia Kołtan, Irina Kondratenko, Isabelle Meyts, Gulnara M. Nasrullayeva, Lucia D. Notarangelo, Srdjan Pasic, Isabelle Pellier, Claudio Pignata, Siraj Misbah, Ansgar Schulz, Gesmar R. Segundo, Anna Shcherbina, Mary Slatter, Robert Sokolic, Pere Soler-Palacin, Polina Stepensky, Joris M. van Montfrans, Samppa Ryhänen, Beata Wolska-Kuśnierz, John B. Ziegler, Xiaodong Zhao, Alessandro Aiuti, Hans D. Ochs, Michael H. Albert

Blood (2024) 143 (24): 2504–2516.

https://doi.org/10.1182/blood.2023021411

Published: 2024

Includes: Supplemental data

Journal Articles

Somatic Mutational Landscape and Transcriptomic Profiles of Lymphoproliferative Disorders with Epstein-Barr Virus Infection in Activated PI3K Delta Syndrome

Akira Nishimura, Akihiro Hoshino, Tsubasa Okano, Kunihiko Moriya, Yuichiro Otsuka, Chikako Owada, Kaori Kanda, Keisuke Okuno, Takako Miyamura, Takahiro Kamiya, Takeshi Isoda, Hidenori Ohnishi, Tomohiro Morio, Hirokazu Kanegane, Masatoshi Takagi, Kohsuke Imai

Blood (2023) 142 (Supplement 1): 2556.

https://doi.org/10.1182/blood-2023-177663

Published: 2023

Journal Articles

Phase II Study of a JAK1/2 Inhibitor Ruxolitinib for Systemic Chronic Active Epstein-Barr Virus Disease: An Investigator-Initiated Trial

Yu Uemura, Masahide Yamamoto, Masataka Ishimura, Hirokazu Kanegane, Akihisa Sawada, Akihiro Hirakawa, Ken-Ichi Imadome, Mayumi Yoshimori, Masashi Nagata, Norio Shimizu, Ryuji Koike, Ayako Arai

Blood (2022) 140 (Supplement 1): 6571–6572.

https://doi.org/10.1182/blood-2022-168565

Published: 2022

Journal Articles

BRAF V600E-Positive Precursors As Molecular Markers of Bone Marrow Involvement in Pediatric Langerhans Cell Histiocytosis

Ko Kudo, MD, Rika Kanezaki, PhD, Akie Kobayashi, MD, Tomohiko Sato, MD PhD, Takuya Kamio, MD PhD, Shinya Sasaki, MD PhD, Imamura Masaru, MD PhD, Chihaya Imai, MD PhD, Masahiro Irie, MD PhD, Yoji Sasahara, MD PhD, Kumiko Ando, MD, Harumi Kakuda, MD PhD, Takehiko Doi, MD PhD, Hiroshi Kawaguchi, MD PhD, Kazuko Kudo, MD PhD, Hirokazu Kanegane, MD PhD, Kiminori Terui, MD PhD, Tsutomu Toki, PhD, Etsuro Ito, MD PhD

Blood (2019) 134 (Supplement_1): 3588.

https://doi.org/10.1182/blood-2019-127536

Published: 2019

Journal Articles

Clinical and Genetic Characteristics of Patients with Shwachman-Diamond Syndrome in Japan

Kenichiro Watanabe, MD PhD, Hirokazu Kanegane, MD PhD, Takayuki Hamabata, MD, Kagehiro Kozuki, MD, Katsutsugu Umeda, MD, PhD, Hiroo Ueno, MD, Kenichi Yoshida, MD PhD, Asahito Hama, Yusuke Okuno, MD PhD, Hideki Muramatsu, MD PhD, Yoshiyuki Takahashi, MD, PhD, Daisuke Hasegawa, MD PhD, Atsushi Manabe, MD PhD, Akira Ohara, MD, Masafumi Ito, MD PhD, Seishi Ogawa, MD PhD, Seiji Kojima, MD PhD, Etsuro Ito, MD PhD

Blood (2018) 132 (Supplement 1): 3862.

https://doi.org/10.1182/blood-2018-99-114313

Published: 2018

Journal Articles

Hematopoietic Stem Cell Transplantation in Children with Refractory Langerhans Cell Histiocytosis

Kazuko Kudo, MD PhD, Miho Maeda, MD, Nobuhiro Suzuki, MD PhD, Hirokazu Kanegane, MD PhD, Shouichi Ohga, MD PhD, Eiichi Ishii, MD PhD, Yoko Shioda, MD, Toshihiko Imamura, MD PhD, Shinsaku Imashuku, MD PhD, Yukiko Tsunematsu, MD, Mikiya Endo, MD, Akira Shimada, MD PhD, Yuuki Koga, MD PhD, Yoshiko Hashii, MD PhD, Jiro Inagaki, MD, Masami Inoue, MD, Ken Tabuchi, MD, Akira Morimoto, MD PhD

Blood (2018) 132 (Supplement 1): 4657.

https://doi.org/10.1182/blood-2018-99-110711

Published: 2018

Journal Articles

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Jannik S Glasmacher, Tanja C Bittner, MD, Hans D Ochs, MD, Alessandro Aiuti, MD PhD, Peter D Arkwright, MD, Dmitry Balashov, Uta Behrends, Bernd H. Belohradsky, MD, Elisa Bertoni, David K. Buchbinder, MD MSHS, Michael Browning, Anastasiia Bondarenko, Fabio Candotti, MD, Alessandro Cattoni, Liudmyla Chernyshova, Joseph H. Chewning, MD, Peter Ciznar, Theresa Cole, Beatriz T Costa-Carvalho, Wojciech Czogala, Gregor Dueckers, David M Edgar, Fatih Erbey, Anders Fasth, MD PhD, Renata Formankova, MD PhD, Tomas Freiberger, Eleonora Gambineri, Andrew Gennery, MD, Frederick D Goldman, MD, Luis I Gonzalez-Granado, Tiago N Gulmaraes, David Hagin, MD PhD, Fabian Hauck, MD PhD, Tarja Heiskanen-Kosma, Manfred Hoenig, MD, Hanna Juntti, Hirokazu Kanegane, Leena Kainulainen, Neslihan E Karaca, Sara S Kilic, Christoph Klein, MD PhD, Sylwia Koltan, Irina Kondratenko, Dawei Liu, MD, Susanne Matthes, MD, Juliana T L Mazzucchelli, Isabelle Meyts, Siraj Misbah, Zohreh Nademi, Gulnara Nasrullayeva, Lucia D Notarangelo, Pere Soler-Palacin, Olga Pashchenko, Srdjan Pasic, Isabelle Pellier, MD, Claudio Pignata, Camilla Roepstorff, Catharina Schuetz, Ansgar S Schulz, MD PhD Prof., Gesmar R S Segundo, Anna Shcherbina, Joanne Smart, Robert A. Sokolic, MD, Polina Stepensky, MD, Troy Torgerson, MD PhD, Svetlana Vakhlyarskaya, Joris van Montfrans, MD PhD, Kim Vettenranta, MD PD, Beata Wolska-Kusnierz, Xiaodong Zhao, John B Ziegler, Xuan Zhang, Michael H. Albert, MD

Blood (2016) 128 (22): 366.

https://doi.org/10.1182/blood.V128.22.366.366

Published: 2016

Journal Articles

Whole-Exome Analysis of Autoimmune Lymphoproliferative Syndrome-like Diseases

Masatoshi Takagi, MD PhD, Kohsuke Imai, MD PhD, Jinhua Piao, DDS, PhD, Motoy Yamashita, MD, Akihiro Hoshino, MD, Tsubasa Okano, MD, Hirokazu Kanegane, MD PhD, Hideki Muramatsu, MD PhD, Yusuke Okuno, MD PhD, Yuichi Shiraishi, MD PhD, Kenichi Chiba, BA, Hiroko Tanaka, BA, Satoru Miyano, MD PhD, Kenichi Yoshida, MD PhD, Hiroo Ueno, MD, Seishi Ogawa, MD PhD, Yasuhide Hayashi, MD PhD, Seiji Kojima, MD PhD, Tomohiro Morio, MD PhD

Blood (2015) 126 (23): 1022.

https://doi.org/10.1182/blood.V126.23.1022.1022

Published: 2015

Journal Articles

A Mouse Model for XLP-2 Disease Uncovers a Critical Function for IL-1beta and TNF in Driving Hyper-Inflammation

Philipp J. Jost, MD, Monica Yabal, PhD, Heiko Adler, PhD, Nathalie Knies, Christina Groß, Rune Busk Damgaard, Hirokazu Kanegane, MD PhD, Christian Peschel, MD, Andreas Strasser, PhD, Olaf Groß, Jürgen Ruland, MD, Mads Gyrd-Hansen, PhD

Blood (2014) 124 (21): 1403.

https://doi.org/10.1182/blood.V124.21.1403.1403

Published: 2014

Journal Articles

Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome

Tsutomu Toki, Rika Kanezaki, Eri Kobayashi, Hiroshi Kaneko, Mikiko Suzuki, RuNan Wang, Kiminori Terui, Hirokazu Kanegane, Miho Maeda, Mikiya Endo, Tatsuki Mizuochi, Souichi Adachi, Yasuhide Hayashi, Masayuki Yamamoto, Ritsuko Shimizu, Etsuro Ito

Blood (2013) 121 (16): 3181–3184.

https://doi.org/10.1182/blood-2012-01-405746

Published: 2013

Includes: Supplemental data

Journal Articles

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

Blood (2013) 121 (6): 877–883.

https://doi.org/10.1182/blood-2012-06-432500

Published: 2013

Journal Articles

Knockdown of Shwachman-Diamond Syndrome Gene, SBDS , Induces Increased Expression of Galectin-1 and Impaired Cell Growth.

Masafumi Yamaguchi, PhD, Kingo Fujimura, Hirokazu Kanegane, MD, PhD, Hanae Toga-Yamaguchi, Naoki Okamura

Blood (2012) 120 (21): 2360.

https://doi.org/10.1182/blood.V120.21.2360.2360

Published: 2012

Journal Articles

Genetic Basis of Myeloid Proliferation Related to Down Syndrome

Blood (2012) 120 (21): 535.

https://doi.org/10.1182/blood.V120.21.535.535

Published: 2012

Journal Articles

Identification of Novel Fusion Genes with 28S Ribosomal DNA in Hematologic Malignancies

Satoru Kobayashi, Tomohiko Taki, MD, PhD, Hisao Nagoshi, MD, Yoshiaki Chinen, MD, Yuichi Yokokawa, MD, Hirokazu Kanegane, MD, PhD, Yosuke Matsumoto, MD, PhD, Junya Kuroda, MD, PhD, Shigeo Horiike, MD, PhD, Kazuhiro Nishida, MD, PhD, Masafumi Taniwaki, MD, PhD

Blood (2012) 120 (21): 4418.

https://doi.org/10.1182/blood.V120.21.4418.4418

Published: 2012

Journal Articles

GATA1 Mutants Lacking Rb-Binding Motif Observed in Transient Abnormal Myelopoiesis in Down Syndrome

Tsutomu Toki, PhD, Eri Kobayashi, MS, Rika Kanezaki, MS, RuNan Wang, MD, Kiminori Terui, MD, PhD, Hirokazu Kanegane, MD, PhD, Miho Maeda, MD, PhD, Mikiya Endo, MD, PhD, Tatsuki Mizuochi, MD, PhD, Souichi Adachi, MD, PhD, Yasuhide Hayashi, MD, PhD, Ritsuko Shimizu, MD, PhD, Masayuki Yamamoto, MD, PhD, Etsuro Ito, MD, PhD

Blood (2011) 118 (21): 1491.

https://doi.org/10.1182/blood.V118.21.1491.1491

Published: 2011

Journal Articles

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Blood (2011) 117 (5): 1522–1529.

https://doi.org/10.1182/blood-2010-07-298372

Published: 2011

Includes: Supplemental data

Journal Articles

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Blood (2011) 117 (1): 53–62.

https://doi.org/10.1182/blood-2010-06-284935

Published: 2011

Includes: Supplemental data

Journal Articles

Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia

Blood (2010) 116 (22): 4631–4638.

https://doi.org/10.1182/blood-2010-05-282426

Published: 2010

Includes: Supplemental data

Journal Articles

Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency.

Satoshi Okada, MD, PhD, Teruyuki Kajiume, MD, PhD, Miyuki Tsumura, MSc, Kenichiro Shirao, MD, Yoshinori Ohno, MSc, Shin’ichiro Yasunaga, MD, PhD, Motoaki Ohtsubo, PhD, Mostafa Mofamed Sira, Hirokazu Kanegane, MD, PhD, Toshio Miyawaki, MD, PhD, Yoshihiro Takihara, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2008) 112 (11): 1473.

https://doi.org/10.1182/blood.V112.11.1473.1473

Published: 2008

Journal Articles

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Yasuhiro Tabata, Joyce Villanueva, Susan Molleran Lee, Kejian Zhang, Hirokazu Kanegane, Toshio Miyawaki, Janos Sumegi, Alexandra H. Filipovich

Blood (2005) 105 (8): 3066–3071.

https://doi.org/10.1182/blood-2004-09-3651

Published: 2005

NARROW

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Somatic Mutational Landscape and Transcriptomic Profiles of Lymphoproliferative Disorders with Epstein-Barr Virus Infection in Activated PI3K Delta Syndrome

Phase II Study of a JAK1/2 Inhibitor Ruxolitinib for Systemic Chronic Active Epstein-Barr Virus Disease: An Investigator-Initiated Trial

BRAF V600E-Positive Precursors As Molecular Markers of Bone Marrow Involvement in Pediatric Langerhans Cell Histiocytosis

Clinical and Genetic Characteristics of Patients with Shwachman-Diamond Syndrome in Japan

Hematopoietic Stem Cell Transplantation in Children with Refractory Langerhans Cell Histiocytosis

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Whole-Exome Analysis of Autoimmune Lymphoproliferative Syndrome-like Diseases

A Mouse Model for XLP-2 Disease Uncovers a Critical Function for IL-1beta and TNF in Driving Hyper-Inflammation

Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

Knockdown of Shwachman-Diamond Syndrome Gene, SBDS , Induces Increased Expression of Galectin-1 and Impaired Cell Growth.

Genetic Basis of Myeloid Proliferation Related to Down Syndrome

Identification of Novel Fusion Genes with 28S Ribosomal DNA in Hematologic Malignancies

GATA1 Mutants Lacking Rb-Binding Motif Observed in Transient Abnormal Myelopoiesis in Down Syndrome

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia

Novel Heterozygous Mutation 572insA in TACI Identified in a Patient with Selective IgA Deficiency.

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

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American Society of Hematology

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ASH Publications

American Society of Hematology

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