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  1. Article: Case report: The altered rate of monocytic cell death in a patient of Muckle-Wells syndrome with atypical clinical course.

    Murakawa, Saori / Yoneda, Toru / Hoshina, Takayuki / Ishimura, Masataka / Kusuhara, Koichi

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1133097

    Abstract: Muckle-Wells syndrome (MWS) is an autosomal dominant autoinflammatory disease recognized as the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS) caused ... ...

    Abstract Muckle-Wells syndrome (MWS) is an autosomal dominant autoinflammatory disease recognized as the intermediate phenotype of cryopyrin-associated periodic syndrome (CAPS) caused by
    Language English
    Publishing date 2023-02-16
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1133097
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency.

    Sonoda, Motoshi / Ishimura, Masataka / Ogata, Reina / Oda, Hirotsugu / Ohga, Shouichi

    Journal of clinical immunology

    2023  Volume 43, Issue 8, Page(s) 1743–1746

    MeSH term(s) Humans ; Male ; Immunologic Deficiency Syndromes/complications ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/genetics ; Incontinentia Pigmenti/diagnosis ; Incontinentia Pigmenti/genetics
    Language English
    Publishing date 2023-07-11
    Publishing country Netherlands
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01543-2
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1640: Show issues Location:
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  3. Article ; Online: Hypoplastic crisis in hereditary spherocytosis associated with Kawasaki disease.

    Kobushi, Hirokazu / Ishimura, Masataka / Fukuoka, Shouji / Ohga, Shouichi

    Pediatrics and neonatology

    2022  Volume 64, Issue 2, Page(s) 225–226

    MeSH term(s) Humans ; Mucocutaneous Lymph Node Syndrome/complications ; Spherocytosis, Hereditary/complications
    Language English
    Publishing date 2022-11-15
    Publishing country Singapore
    Document type Letter
    ZDB-ID 2441816-X
    ISSN 2212-1692 ; 1875-9572
    ISSN (online) 2212-1692
    ISSN 1875-9572
    DOI 10.1016/j.pedneo.2022.09.012
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  4. Article ; Online: Williamsia muralis

    Sonoda, Motoshi / Motomura, Yoshitomo / Ishimura, Masataka / Kanno, Shunsuke / Kiyosuke, Makiko / Ohga, Shouichi

    Access microbiology

    2023  Volume 5, Issue 12

    Abstract: Introduction: Williamsia muralis: Case presentation: A 10-year-old Japanese boy presented with fever and the swelling of the left cheek 8 days after HCT for the treatment of Fanconi anaemia. Gram-positive, rod-shaped bacteria were isolated from the ... ...

    Abstract Introduction: Williamsia muralis
    Case presentation: A 10-year-old Japanese boy presented with fever and the swelling of the left cheek 8 days after HCT for the treatment of Fanconi anaemia. Gram-positive, rod-shaped bacteria were isolated from the blood cultures after 5 days incubation. 16S rRNA sequencing, but not mass spectrometry, identified a strain of
    Conclusion: W. muralis
    Language English
    Publishing date 2023-12-04
    Publishing country England
    Document type Case Reports
    ISSN 2516-8290
    ISSN (online) 2516-8290
    DOI 10.1099/acmi.0.000679.v3
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  5. Article ; Online: Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study.

    Kanegane, Hirokazu / Ishimura, Masataka / Kawai, Toshinao / Okada, Satoshi / Okamatsu, Nobuaki / Go, Madoka / Noto, Shinichi

    Frontiers in immunology

    2023  Volume 14, Page(s) 1244250

    Abstract: Introduction: Primary immunodeficiency diseases (PIDs) are rare inherited diseases resulting in impaired immunity. People with PID experience lower health-related quality of life (HR-QOL) and disease-related burdens in daily activities. This ongoing, ... ...

    Abstract Introduction: Primary immunodeficiency diseases (PIDs) are rare inherited diseases resulting in impaired immunity. People with PID experience lower health-related quality of life (HR-QOL) and disease-related burdens in daily activities. This ongoing, prospective observational study aims to evaluate disease activity, treatment status, treatment-related burden, daily activities, and HR-QOL in patients with PID in Japan over a 1-year period. In this interim report (database lock: July 29, 2022), we present baseline results.
    Methods: Participants were enrolled between November 2021 and May 2022; data were collected four times/year per participant until May 2023 using an online electronic patient-reported outcomes system. Patients with PID and healthy volunteers aged ≥12 years, residing in Japan, and with access to a smartphone were eligible. HR-QOL (primary endpoint) was assessed by the EuroQol-5 Dimensions-5 Levels (EQ-5D-5L) and the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36). Work productivity was assessed by the Work Productivity and Activity Impairment (WPAI) Questionnaire. Other aspects of PID and burden were assessed with a new questionnaire developed in-house. The study is registered at the University hospital Medical Information Network clinical trials registry (UMIN000045622).
    Results: The full interim analysis set comprised 71 patients with PID and 47 healthy volunteers. The most common International Union of Immunological Societies PID category was primary antibody deficiency (56.3% of patients). Complications were common, especially recurrent respiratory tract infections (63.4%). Most patients with PID were treated with immunoglobulin replacement therapy (73.2%); 22.4% of these patients had serum immunoglobulin levels <700 mg/dL. Among patients who did not undergo hematopoietic cell transplantation, EQ-5D-5L (n=67) and SF-36 (n=59) Physical and Mental Component Summary scores were significantly lower than in healthy volunteers (p < 0.001). WPAI absenteeism, work productivity loss, and activity impairment scores were significantly lower in 42 working patients with PID than in 37 working healthy volunteers (p < 0.05). Other results indicated that patients with PID experience substantial burdens related to medical visits, expenses, work, and daily activities.
    Discussion: This interim analysis confirms that patients with PID in Japan have lower HR-QOL and work productivity compared with healthy individuals and experience substantial limitations and burdens in their daily lives.
    MeSH term(s) Humans ; Immunoglobulins ; Japan/epidemiology ; Patient Reported Outcome Measures ; Primary Immunodeficiency Diseases/therapy ; Quality of Life ; Prospective Studies
    Chemical Substances Immunoglobulins
    Language English
    Publishing date 2023-09-27
    Publishing country Switzerland
    Document type Observational Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2023.1244250
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  6. Article: [Genetic predisposition to early-onset thrombophilia: a study on challenges in personalized medicine for mothers, infants, and children].

    Ohga, Shouichi / Egami, Naoki / Hotta, Taeko / Uchiumi, Takeshi / Ochiai, Masayuki / Ishimura, Masataka

    Rinsho ketsueki] The Japanese journal of clinical hematology

    2023  Volume 64, Issue 9, Page(s) 1131–1136

    Abstract: The number of reports on genetic predisposition to pediatric thrombosis is increasing. The risk of thrombosis in childhood varies according to patient age, and the contribution of genetic predisposition also differs. The term early-onset thrombophilia, ... ...

    Abstract The number of reports on genetic predisposition to pediatric thrombosis is increasing. The risk of thrombosis in childhood varies according to patient age, and the contribution of genetic predisposition also differs. The term early-onset thrombophilia, which occurs until the age of 20 years in patients with genetic diagnosis, was defined. Then, the registry in Japan was established. Further, publications were reviewed comprehensively, and results revealed the genetic and clinical characteristics of patients. Less than 60% of patients presented with protein C (PC) deficiency, and over half of them had PC-gene monoallelic variants. The number of patients with protein S or antithrombin deficiency increased with age. None of them were aged between 6 and 8 years. PC-Tottori and protein S-Tokushima, which are high-frequency and low-risk variants in Japanese, contributed to the development of thrombosis. However, PC-Tottori did not affect the development of severe PC deficiency. One exceptional de novo PC-deficient variant was identified in 32 EOT families, and thrombosis developed concurrently in three pairs of mothers-newborns. Appropriate EOT screening tests targeting PC deficiency are required to prevent maternal and neonatal thromboses.
    MeSH term(s) Child ; Humans ; Infant ; Infant, Newborn ; Genetic Predisposition to Disease ; Precision Medicine ; Thrombophilia/genetics ; Thrombophilia/diagnosis ; Thrombosis ; Protein C Deficiency/diagnosis ; Protein C Deficiency/genetics
    Language Japanese
    Publishing date 2023-10-29
    Publishing country Japan
    Document type English Abstract ; Journal Article
    ZDB-ID 390900-1
    ISSN 0485-1439
    ISSN 0485-1439
    DOI 10.11406/rinketsu.64.1131
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1175: Show issues Location:
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  7. Article: [Cancer predisposition in inherited bone marrow failure syndromes and primary immunodeficiency diseases].

    Ishimura, Masataka / Ohga, Shouichi

    Rinsho ketsueki] The Japanese journal of clinical hematology

    2019  Volume 60, Issue 6, Page(s) 702–707

    Abstract: Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes associated with DNA repair and telomere maintenance. In addition, mutations in ribosome-related genes cause defective hematopoiesis. Patients with IBMFS exhibit a ... ...

    Abstract Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes associated with DNA repair and telomere maintenance. In addition, mutations in ribosome-related genes cause defective hematopoiesis. Patients with IBMFS exhibit a predisposition to developing hematological malignancy or solid tumor because of the defect in cellular and molecular hemostasis. The SAMD9 mutation causes the multisystem disorder, MIRAGE syndrome, characterized by congenital adrenal hypoplasia and loss of chromosome 7, providing a novel insight into the correlation between the germline and somatic mutations of SAMD9/SAMD9L and myelodysplastic syndrome (MDS) with monosomy 7. Primary immunodeficiency diseases (PID) are caused by inborn errors of the immune system. PID patients with inadequate tumor immunity are at an elevated risk of developing malignancies such as lymphoma, leukemia, and gastrointestinal cancer. Recently, monocytopenia and mycobacterial infection (MonoMAC) syndrome with the GATA2 gene mutation have been reported as PID related to bone marrow failure. Patients with MonoMAC syndrome often develop MDS and acute myeloid leukemia. Here, we present the pediatric-onset IBMFS and/or PID with cancer predisposition and briefly discuss the tumorigenesis in each monogenic disease.
    MeSH term(s) Anemia, Aplastic/complications ; Anemia, Aplastic/genetics ; Bone Marrow Diseases/complications ; Bone Marrow Diseases/genetics ; Child ; Genetic Predisposition to Disease ; Hemoglobinuria, Paroxysmal/complications ; Hemoglobinuria, Paroxysmal/genetics ; Humans ; Immunologic Deficiency Syndromes/complications ; Immunologic Deficiency Syndromes/genetics ; Myelodysplastic Syndromes ; Neoplasms/genetics
    Language Japanese
    Publishing date 2019-06-06
    Publishing country Japan
    Document type Journal Article ; Review
    ZDB-ID 390900-1
    ISSN 0485-1439
    ISSN 0485-1439
    DOI 10.11406/rinketsu.60.702
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  8. Article ; Online: Adenovirus-associated Paroxysmal Cold Hemoglobinuria as Chilly Month Hemolytic Crisis.

    Harada, Nobutaka / Sonoda, Motoshi / Ishimura, Masataka / Eguchi, Katsuhide / Motomura, Yoshitomo / Fujino, Keiko / Ohga, Shouichi

    The Pediatric infectious disease journal

    2023  Volume 43, Issue 4, Page(s) e147–e148

    MeSH term(s) Humans ; Hemoglobinuria, Paroxysmal/complications ; Hemoglobinuria, Paroxysmal/diagnosis ; Adenoviridae ; Adenoviridae Infections
    Language English
    Publishing date 2023-12-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 392481-6
    ISSN 1532-0987 ; 0891-3668
    ISSN (online) 1532-0987
    ISSN 0891-3668
    DOI 10.1097/INF.0000000000004230
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  9. Article ; Online: Diagnostic delay of MYH9-related disorder in Japan.

    Sakamoto, Atsushi / Uchiyama, Toru / Kaname, Tadashi / Iguchi, Akihiro / Ohara, Osamu / Ishimura, Masataka / Onum, Masaei / Kunishima, Shinji / Ishiguro, Akira

    British journal of haematology

    2024  

    Abstract: MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and ... ...

    Abstract MYH9-related disorder (MYH9-RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9-RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9-RD from the congenital thrombocytopenia registry in Japan. Our cohort comprises 54.8% adults over 18 years at confirmed diagnosis. We found a significant difference (p < 0.0001) between the median age at definitive diagnosis of 25.0 years and for indicative thrombocytopenia it was 9.0 years. Our findings strongly suggest diagnostic delay of MYH9-RD in Japan. Our registry system will continue to contribute to this issue.
    Language English
    Publishing date 2024-04-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/bjh.19484
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  10. Article: [Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases].

    Ishimura, Masataka / Eguchi, Katsuhhide / Sonoda, Motoshi / Shiraishi, Akira / Ohga, Shouichi

    Rinsho ketsueki] The Japanese journal of clinical hematology

    2021  Volume 62, Issue 8, Page(s) 1327–1333

    Abstract: Inherited bone marrow failure syndromes (IBMFS) are caused by genetic mutations at loci associated with DNA repair, telomere maintenance, and ribosome function. Hematopoietic stem cell transplantation (HSCT) can result in a permanent cure in transfusion- ... ...

    Abstract Inherited bone marrow failure syndromes (IBMFS) are caused by genetic mutations at loci associated with DNA repair, telomere maintenance, and ribosome function. Hematopoietic stem cell transplantation (HSCT) can result in a permanent cure in transfusion-dependent patients if reduced-intensity conditioning and long-term screening for relapse can be successfully implemented. Primary immunodeficiency diseases (PIDs) arise from inborn errors of the host immune system and affected patients must protect themselves against intractable infections and immune system dysregulation. HSCT is curative in many pediatric patients; however, specific immunomodulatory therapies are now available for controlling autoimmune and/or autoinflammatory diseases. Advanced clinical sequencing technologies have continued to identify novel monogenic diseases that share the phenotype of hematological and immunological abnormalities, along with adult cases of IBMFS and/or PIDs. Importantly, genetic counseling is required for carrier detection while selecting sibling donors for HSCT. Here, we describe treatment strategies for IBMFS and/or PIDs and associated pitfalls.
    MeSH term(s) Bone Marrow Diseases/genetics ; Bone Marrow Diseases/therapy ; Child ; Congenital Bone Marrow Failure Syndromes ; Hematopoietic Stem Cell Transplantation ; Humans ; Primary Immunodeficiency Diseases ; Tissue Donors ; Transplantation Conditioning
    Language Japanese
    Publishing date 2021-09-08
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 390900-1
    ISSN 0485-1439
    ISSN 0485-1439
    DOI 10.11406/rinketsu.62.1327
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