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Journal Articles

Long-Term Follow-up of Patients with Chronic Granulomatous Disease Receiving Bone Marrow Transplantation Using Immunosuppressive Conditioning Regimen

Masao Kobayashi, MD PhD, Yoko Mizoguchi, MD, Shuhei Karakawa, MD, Mizuka Miki, MD, Shiho Nishimura, MD, Satoshi Okada, MD, Hiroshi Kawaguchi, MD

Blood (2017) 130 (Supplement 1): 3574.

https://doi.org/10.1182/blood.V130.Suppl_1.3574.3574

Published: 2017

Journal Articles

Successful Hematopoietic Stem Cell Transplantation Using an Immunosuppressive Conditioning Regimen in Ten Patients with Severe Congenital Neutropenia: A Single-Institute Experience

Yoko Mizoguchi, MD PhD, Mizuka Miki, MD, Aya Furue, MD, Shiho Nishimura, MD, Maiko Shimomura, MD PhD, Keita Tomioka, MD, Sonoko Sakata, MD, Ikue Chijimatsu, MD, Shuhei Karakawa, MD PhD, Satoshi Okada, MD PhD, Takehiko Doi, MD PhD, Kazuhiro Nakamura, MD PhD, Hiroshi Kawaguchi, MD PhD, Masao Kobayashi, MD PhD

Blood (2016) 128 (22): 3688.

https://doi.org/10.1182/blood.V128.22.3688.3688

Published: 2016

Journal Articles

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Blood (2016) 127 (25): 3154–3164.

https://doi.org/10.1182/blood-2015-11-679902

Published: 2016

Includes: Supplemental data

Journal Articles

MSMD Patients with IFN-g-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption

Shiho Nishimura, MD, Miyuki Tsumura, PhD, Osamu Hirata, MD PhD, Reiko Kagawa, MD, Yoko Mizoguchi, MD PhD, Satoshi Okada, MD PhD, Masao Kobayashi, MD PhD

Blood (2015) 126 (23): 3591.

https://doi.org/10.1182/blood.V126.23.3591.3591

Published: 2015

Journal Articles

Impairment of IL-17 Immunity to Candida and IFN-g Immunity to Mycobacterium in Humans with Bi-Allelic Rorc mutations

Satoshi Okada, MD PhD, Janet Markle, PhD, Masao Kobayashi, MD PhD, Jacinta Bustamante, MD PhD, Jean-Laurent Casanova, MD PhD

Blood (2015) 126 (23): 205.

https://doi.org/10.1182/blood.V126.23.205.205

Published: 2015

Journal Articles

STAT1 Gain-of-Function in Patients with Chronic Mucocutaneous Candidiasis Can be Detected By the Excessive Phosphorylation of STAT1 in Peripheral Blood Monocytes

Yoko Mizoguchi, MD PhD, Miyuki Tsumura, PhD, Satoshi Okada, MD PhD, Osamu Hirata, MD PhD, Shizuko Minegishi, Nobuyuki Hyakuna, MD PhD, Jean-Laurent Casanova, MD PhD, Tomohiro Morio, MD PhD, Masao Kobayashi, MD PhD

Blood (2014) 124 (21): 4111.

https://doi.org/10.1182/blood.V124.21.4111.4111

Published: 2014

Journal Articles

Excessive Nitric Oxide Production of CGD Neutrophils Induces the Down-Regulation of NOS3 and EDN1 Expression in Human Endothelial Cells

Akari Utsunomiya, MD, Miyuki Tsumura, PhD, Norioki Ohno, MDPhD, Mizuka Miki, MD PhD, Satoshi Okada, MD PhD, Hiroshi Kawaguchi, MDPhD, Kazuhiro Nakamura, MD PhD, Masao Kobayashi, MD PhD

Blood (2014) 124 (21): 2726.

https://doi.org/10.1182/blood.V124.21.2726.2726

Published: 2014

Journal Articles

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Blood (2013) 122 (14): 2390–2401.

https://doi.org/10.1182/blood-2013-01-480814

Published: 2013

Includes: Supplemental data

Journal Articles

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

Yoshiyuki Kobayashi, MD, Hirotaka Matsui, MD, Akinori Kanai, PhD, Miyuki Tsumura, MSc, Satoshi Okada, MD, PhD, Mizuka Miki, MD, Kazuhiro Nakamura, MD, PhD, Shinji Kunishima, PhD, Toshiya Inaba, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2012) 120 (21): 1081.

https://doi.org/10.1182/blood.V120.21.1081.1081

Published: 2012

Journal Articles

Gain-of-Phosphorylation Mutations in Coiled-Coil and DNA-Binding Domain of STAT1 Identified in Japanese Patients with Chronic Mucocutaneous Candidiasis

Yoko Mizoguchi, MD, Satoshi Okada, MD, PhD, Miyuki Tsumura, MSc, Osamu Hirata, MD, Jean-Laurent Casanova, MD, PhD, Tomohiro Morio, MD, PhD, Masao Kobayashi, MD, PhD

Blood (2012) 120 (21): 4831.

https://doi.org/10.1182/blood.V120.21.4831.4831

Published: 2012

Journal Articles

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

Blood (2012) 119 (23): 5458–5466.

https://doi.org/10.1182/blood-2011-05-354167

Published: 2012

Includes: Supplemental data

Journal Articles

Clinical and Genetic Characteristics of Patients with Severe Congenital Neutropenia in Japan,

Yoko Mizoguchi, MD, Kazuhiro Nakamura, MD, Shuhei Karakawa, MD, Satoshi Okada, MD, Hiroshi Kawaguchi, MD, Masao Kobayashi, MD, PhD

Blood (2011) 118 (21): 3213.

https://doi.org/10.1182/blood.V118.21.3213.3213

Published: 2011

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

Blood (2010) 116 (21): 1732.

https://doi.org/10.1182/blood.V116.21.1732.1732

Published: 2010

Journal Articles

A Novel Mutation K673R In STAT1 Impaired the STAT1 Signal Transduction In a dominant– Negative Manner Identified In a Japanese Boy with MSMD

Yoko Mizoguchi, MD, Miyuki Tsumura, B.Sc., Satoshi Okada, MD, Hidemasa Sakai, MD, Ryuta Nishikomori, MD, Shin'ichiro Yasunaga, MD, Motoaki Ohtsubo, PhD, Takuji Murata, MD, Hideto Obata, MD, Takahiro Yasumi, MD, Toshio Heike, MD, Tatsutoshi Nakahata, MD, Yoshihiro Takihara, MD, Masao Kobayashi, MD

Blood (2010) 116 (21): 1734.

https://doi.org/10.1182/blood.V116.21.1734.1734

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

Blood (2009) 114 (22): 2665.

https://doi.org/10.1182/blood.V114.22.2665.2665

Published: 2009

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

Association of Neurodevelopmental Abnormalities Is a Common Clinical Character in Japanese Patients with Severe Congenital Neutropenia Due to HAX1 Deficiency.

Satoshi Okada, MD, Nobutsune Ishikawa, M.D., Kenichiro Shirao, M.D., Miyuki Tsumura, M.Sc., Takashi Satoh, M.D., Yoshinori Ohno, M.Sc., Shin’ichiro Yasunaga, Ph.D., Motoaki Ohtsubo, Ph.D., Yoshihiro Takihara, Ph.D., Masao Kobayashi, M.D.

Blood (2007) 110 (11): 665.

https://doi.org/10.1182/blood.V110.11.665.665

Published: 2007

Journal Articles

Abnormal Localization of Neutrophil Elastase in Patients with Severe Congenital Neutropenia.

Takashi Sato, MD, Masakazu Habara, MD, Hiroki Kihara, MD, Hiroshi Kawaguchi, MD, Mizuka Miki, MD, Kazuhiro Nakamura, MD, Satoshi Okada, MD, Nobutsune Ishikawa, MD, Norioki Ohno, MD, Masao Kobayashi

Blood (2006) 108 (11): 1279.

https://doi.org/10.1182/blood.V108.11.1279.1279

Published: 2006

Journal Articles

A Novel Mutation 774del4 in IFNGR1 , Which Produces Truncated Form of Interferon γ Receptor 1, Causes a Dominant-Negative Effect on Interferon γ Signal Transduction.

Satoshi Okada, MD, Nobutsune Ishikawa, M.D., Kenichirou Shirao, M.D., Hiroshi Kawaguchi, M.D., Miyuki Tsumura, Ph.D., Yoshinori Ohno, Ph.D., Shin’ichiro Yasunaga, Ph.D., Motoaki Ohtsubo, Ph.D., Yoshihiro Takihara, Ph.D., Masao Kobayashi, M.D.

Blood (2006) 108 (11): 1246.

https://doi.org/10.1182/blood.V108.11.1246.1246

Published: 2006

Journal Articles

Neutrophil Elastase Modulates Granulopoiesis through the Interaction of G-CSF and G-CSF Receptor.

Takashi Sato, MD, Masakazu Habara, MD, Hiroki Kihara, MD, Hiroshi Kawaguchi, MD, Kazuhiro Nakamura, MD, Satoshi Okada, MD, Nobutsune Ishikawa, MD, Norioki Ohno, MD, Masao Kobayashi, MD

Blood (2005) 106 (11): 3066.

https://doi.org/10.1182/blood.V106.11.3066.3066

Published: 2005

NARROW

Long-Term Follow-up of Patients with Chronic Granulomatous Disease Receiving Bone Marrow Transplantation Using Immunosuppressive Conditioning Regimen

Successful Hematopoietic Stem Cell Transplantation Using an Immunosuppressive Conditioning Regimen in Ten Patients with Severe Congenital Neutropenia: A Single-Institute Experience

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

MSMD Patients with IFN-g-STAT1 Signaling Defect Present Enhanced Osteoclastogenesis and Bone Resorption

Impairment of IL-17 Immunity to Candida and IFN-g Immunity to Mycobacterium in Humans with Bi-Allelic Rorc mutations

STAT1 Gain-of-Function in Patients with Chronic Mucocutaneous Candidiasis Can be Detected By the Excessive Phosphorylation of STAT1 in Peripheral Blood Monocytes

Excessive Nitric Oxide Production of CGD Neutrophils Induces the Down-Regulation of NOS3 and EDN1 Expression in Human Endothelial Cells

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Identification of Integrin β3 L718P Mutation in a Pedigree with Autosomal Dominant Macrothrombocytopenia

Gain-of-Phosphorylation Mutations in Coiled-Coil and DNA-Binding Domain of STAT1 Identified in Japanese Patients with Chronic Mucocutaneous Candidiasis

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

Clinical and Genetic Characteristics of Patients with Severe Congenital Neutropenia in Japan,

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

A Novel Mutation K673R In STAT1 Impaired the STAT1 Signal Transduction In a dominant– Negative Manner Identified In a Japanese Boy with MSMD

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

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

Association of Neurodevelopmental Abnormalities Is a Common Clinical Character in Japanese Patients with Severe Congenital Neutropenia Due to HAX1 Deficiency.

Abnormal Localization of Neutrophil Elastase in Patients with Severe Congenital Neutropenia.

A Novel Mutation 774del4 in IFNGR1 , Which Produces Truncated Form of Interferon γ Receptor 1, Causes a Dominant-Negative Effect on Interferon γ Signal Transduction.

Neutrophil Elastase Modulates Granulopoiesis through the Interaction of G-CSF and G-CSF Receptor.

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American Society of Hematology

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American Society of Hematology

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