Hirokazu Kanegane 研究室

主宰者：Hirokazu Kanegane

東京医科歯科大学

AI 要約（直近 5 年の研究成果）

Hirokazu Kanegane研究室は、遺伝性の免疫機能障害（先天性免疫不全症）の診断と治療に取り組んでいます。研究の対象は、遺伝子の異常に基づく様々なタイプの免疫不全で、感染症への抵抗力が低下したり、自己免疫疾患を発症したり、血液がん化する患者が含まれます。これらの患者の血液や組織から遺伝子配列を解析し、原因となっている遺伝子変異を同定することで、個々の患者の病態の仕組みを明らかにしています。診断手法としては、次世代シーケンシングやフローサイトメトリー（細胞の詳細な性質を測定する技術）といった分子生物学的手法を活用しています。患者から採取した細胞を培養し、特定の刺激を与えて反応を観察する実験や、患者細胞を持つマウスを用いた動物実験も行っており、遺伝子異常がどのようなメカニズムで免疫機能を障害するのかを調べています。研究室は同時に、複数の治療戦略の臨床的な効果をも検証しており、造血幹細胞移植の最適な前処置法の開発や、免疫グロブリン補充療法の改良、また新規の分子標的薬の有効性評価を進めています。これらの基礎研究と臨床研究の融合により、先天性免疫不全症の患者の診断の迅速化と治療成績の向上を目指しています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

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研究成果（100 件）

[2026] Interim Safety and Efficacy Outcomes of an Open-Label Long-Term Extension Study of Treatment with PI3Kδ Inhibitor Leniolisib in Pediatric Patients Aged 4-11 Years with Activated PI3Kδ Syndrome (APDS)
DOI: https://doi.org/10.70962/cis2026abstract.217
[2026] LRBA organizes distinct vesicular trafficking systems in distal nephron segments for water and sodium conservation
DOI: https://doi.org/10.1073/pnas.2525505123
[2026] Posttransplant Chimerism Estimation Using Variant-Specific ddPCR in Inborn Errors of Immunity
DOI: https://doi.org/10.1016/j.jtct.2026.04.001
[2026] Pharmacokinetics, safety and tolerability, and efficacy of hyaluronidase-facilitated subcutaneous immunoglobulin 10% (HyQvia ® ) in Japanese patients with primary immunodeficiency diseases
DOI: https://doi.org/10.1080/25785826.2025.2607878
[2026] Polyclonal evolution of lymphoproliferative disorders in XLP1
DOI: https://doi.org/10.70962/jhi.20250202
[2026] Papulonecrotic tuberculid in an infant
DOI: https://doi.org/10.1111/ped.70379
[2026] Identification of a Novel POLR3F Gene Variant in a Patient with Susceptibility to Varicella-Zoster Virus Infection
DOI: https://doi.org/10.70962/jsiad2026abstract.43
[2026] Leniolisib, a Selective Phosphoinositide 3-Kinase Delta (PI3Kδ) Inhibitor, in Japanese Patients Aged 12 and Over with Activated PI3Kδ Syndrome (APDS): Data from a 12-Week, Open-Label, Single-Arm Study
DOI: https://doi.org/10.70962/jsiad2026abstract.39
[2026] CHARGE Syndrome with Athymia Diagnosed by Newborn Screening and Treated with Cord Blood Transplantation: A Case Report
DOI: https://doi.org/10.70962/jsiad2026abstract.32
[2026] Successful Second Transplantation with Thiotepa-Containing Reduced-Intensity Conditioning in Hypomorphic RAG1 Deficiency
DOI: https://doi.org/10.70962/jsiad2026abstract.33

続きを表示（残り 90 件）

[2026] Identification of MMD2 as a Novel Causative Gene for Aggressive Periodontitis and Functional Analysis of Its Pathogenic Role
DOI: https://doi.org/10.70962/jsiad2026abstract.47
[2025] Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia
DOI: https://doi.org/10.3389/fimmu.2025.1628507
[2025] Serum Cytokine Profiling Differentiates Underlying Diseases in Cytokine Storm Syndrome
DOI: https://doi.org/10.1002/art.43349
[2025] Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis
DOI: https://doi.org/10.3389/fimmu.2025.1644552
[2025] Hematopoietic cell transplantation for leukocyte adhesion deficiency: prevention of graft-versus-host-disease
DOI: https://doi.org/10.1080/17474086.2025.2538543
[2025] Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis
DOI: https://doi.org/10.1084/jem.20231911
[2025] Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity
DOI: https://doi.org/10.3389/fimmu.2025.1605857
[2025] X-linked severe combined immunodeficiency with Down syndrome identified by newborn screening
DOI: https://doi.org/10.70962/jhi.20250057
[2025] Clinical characteristics and treatment strategies for A20 haploinsufficiency in Japan: a national epidemiological survey
DOI: https://doi.org/10.3389/fimmu.2025.1548042
[2025] B-cell immunodeficiency associated with polynucleotide kinase 3′-phosphatase (PNKP) deficiency
DOI: https://doi.org/10.1016/j.jacig.2025.100514
[2025] Invasive pneumococcal infection after allogeneic hematopoietic cell transplantation for <scp>NEMO</scp> deficiency
DOI: https://doi.org/10.1111/ped.70125
[2025] Genotype–phenotype correlations in specific granule deficiency: loss of DNA-binding ability and impaired nuclear localization cause severe manifestations due to the c.655_665del CEBPE variant
DOI: https://doi.org/10.1093/cei/uxaf045
[2025] Comprehensive flow cytometry-based diagnosis of XIAP deficiency
DOI: https://doi.org/10.1093/cei/uxaf020
[2025] Quality of Life in Japanese Patients with Primary Immunodeficiency Disease is Disrupted throughout the Year
DOI: https://doi.org/10.1007/s10875-025-01869-z
[2025] Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol
DOI: https://doi.org/10.1007/s12185-025-04000-5
[2025] Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome
DOI: https://doi.org/10.3389/fimmu.2025.1572791
[2025] Dried blood spot proteome identifies subclinical interferon signature in neonates with type I interferonopathy
DOI: https://doi.org/10.1016/j.jaci.2025.04.025
[2025] Healthcare resources for inborn errors of immunity in the Asia-Pacific region
DOI: https://doi.org/10.70962/jhi.20250023
[2025] Centralized rapid genetic diagnosis of combined immunodeficiency in Japan
DOI: https://doi.org/10.1111/ped.70085
[2025] Monitoring measurable residual disease in NUP98 :: NSD1 ‐positive acute myeloid leukemia
DOI: https://doi.org/10.1111/ped.15859
[2025] JAK inhibitor ameliorates inflammatory bowel disease in a patient with IKZF1 haploinsufficiency
DOI: https://doi.org/10.1016/j.clim.2025.110470
[2025] Revisiting X-linked agammaglobulinemia
DOI: https://doi.org/10.70962/jhi.20250020
[2025] Risk‐Stratified Phase II Clinical Trial for Epstein–Barr Virus‐Associated Hemophagocytic Lymphohistiocytosis in Pediatric, Adolescent, and Young Adult Patients in Japan
DOI: https://doi.org/10.1002/pbc.32166
[2025] Impact of novel genetic variants in HYOU1 on neutrophil phenotype
DOI: https://doi.org/10.1182/blood-2025-619
[2025] Refractory mediastinal pyogenic lymphadenitis in a patient with chronic mucocutaneous candidiasis
DOI: https://doi.org/10.1016/j.jiac.2025.102796
[2024] Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study
DOI: https://doi.org/10.1093/immadv/ltae001
[2024] Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency
DOI: https://doi.org/10.1016/j.clim.2024.110405
[2024] Real-world experience of tixagevimab/cilgavimab prophylaxis in Japanese patients with immunodeficiency
DOI: https://doi.org/10.1016/j.jiac.2024.12.006
[2024] Yang and Ying of ruxolitinib administration for macrophage activation syndrome complicated by systemic juvenile idiopathic arthritis
DOI: https://doi.org/10.1093/rheumatology/keae656
[2024] Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant
DOI: https://doi.org/10.3389/fimmu.2024.1478411
[2024] JAK1/2 inhibitor ruxolitinib for the treatment of systemic chronic active Epstein-Barr virus disease: a phase 2 study
DOI: https://doi.org/10.1016/j.bneo.2024.100053
[2024] A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity
DOI: https://doi.org/10.1007/s10875-024-01821-7
[2024] Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan
DOI: https://doi.org/10.1007/s10875-024-01795-6
[2024] Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency
DOI: https://doi.org/10.1007/s10875-024-01758-x
[2024] Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia
DOI: https://doi.org/10.1007/s10875-024-01766-x
[2024] Immune reconstitution and cidofovir administration rescue human adenovirus hepatitis after allogeneic hematopoietic cell transplantation
DOI: https://doi.org/10.1016/j.trim.2024.102093
[2024] 18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
DOI: https://doi.org/10.1007/s10875-024-01751-4
[2024] Phase II study in children and adults under 40 years with newly diagnosed Langerhans cell histiocytosis: protocol for an LCH-19-MSMFB clinical trial in Japan
DOI: https://doi.org/10.1136/bmjopen-2024-084159
[2024] Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity
DOI: https://doi.org/10.1007/s10875-024-01734-5
[2024] Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
DOI: https://doi.org/10.1007/s10875-024-01724-7
[2024] Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report
DOI: https://doi.org/10.1186/s12887-024-04790-3
[2024] Highly sensitive detection of Epstein-Barr virus-infected cells by EBER flow FISH
DOI: https://doi.org/10.1007/s12185-024-03786-0
[2024] Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival
DOI: https://doi.org/10.1182/blood.2023021411
[2024] Case report: emapalumab treatment for a pediatric Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) patient with cytokine storm enabling allogeneic hematopoietic cell transplantation
DOI: https://doi.org/10.21037/tp-24-72
[2024] Somatic variant profiling of a thymoma in Good syndrome
DOI: https://doi.org/10.1016/j.clicom.2024.02.004
[2024] Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth
DOI: https://doi.org/10.1007/s12185-024-03709-z
[2024] Dexamethasone palmitate for children with Epstein-Barr virus associated hemophagocytic lymphohistiocytosis
DOI: https://doi.org/10.1007/s12185-024-03892-z
[2024] Generalized pustular psoriasis that developed in a patient with an NFKB2 variant
[2023] [Hematopoietic cell transplantation for monogenic inflammatory bowel disease].
DOI: https://doi.org/10.11406/rinketsu.64.1213
[2023] Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
DOI: https://doi.org/10.1007/s10875-023-01591-8
[2023] Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function
DOI: https://doi.org/10.1007/s10875-023-01634-0
[2023] Case Report: The leopard sign as a potential characteristic of chronic granulomatous disease-associated colitis, unrelated to colitis severity
DOI: https://doi.org/10.3389/fimmu.2023.1208590
[2023] Somatic Mutational Landscape and Transcriptomic Profiles of Lymphoproliferative Disorders with Epstein-Barr Virus Infection in Activated PI3K Delta Syndrome
DOI: https://doi.org/10.1182/blood-2023-177663
[2023] Patient-reported outcomes in patients with primary immunodeficiency diseases in Japan: baseline results from a prospective observational study
DOI: https://doi.org/10.3389/fimmu.2023.1244250
[2023] Cytokine‐based disease monitoring in refractory <scp>HLH</scp> with primary <scp>EBV</scp> infection
DOI: https://doi.org/10.1111/ped.15590
[2023] Alemtuzumab‐based reduced‐intensity conditioning for <scp>XIAP</scp> deficiency
DOI: https://doi.org/10.1111/ped.15576
[2023] Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function
DOI: https://doi.org/10.1093/immadv/ltad027
[2023] An infant with <scp>A20</scp> haploinsufficiency presenting with periodic fever syndrome: A case report
DOI: https://doi.org/10.1111/1756-185x.14564
[2023] Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
DOI: https://doi.org/10.1007/s10875-023-01566-9
[2023] Successful treatment of DOCK8 deficiency by allogeneic hematopoietic cell transplantation from alternative donors
DOI: https://doi.org/10.1007/s12185-023-03613-y
[2023] Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality
DOI: https://doi.org/10.3389/fimmu.2023.1121059
[2023] A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis
DOI: https://doi.org/10.1093/pnasnexus/pgad104
[2023] Intensification of treatment with vinca alkaloid does not improve outcomes in pediatric patients with Langerhans cell histiocytosis: results from the JPLSG LCH-12 study
DOI: https://doi.org/10.1007/s12185-023-03568-0
[2023] Successful TCRαβ/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency
DOI: https://doi.org/10.1097/mph.0000000000002522
[2023] Hematologically important mutations: Leukocyte adhesion deficiency (second update)
DOI: https://doi.org/10.1016/j.bcmd.2023.102726
[2023] [Diagnosis and treatment of adult patients with inborn errors of immunity].
DOI: https://doi.org/10.11406/rinketsu.64.772
[2022] Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child
DOI: https://doi.org/10.1016/j.jiac.2022.01.011
[2022] Cartilage‐hair hypoplasia with T‐cell dysfunction
DOI: https://doi.org/10.1111/ped.15080
[2022] A Boy With Blau Syndrome Misdiagnosed as Refractory Kawasaki Disease
DOI: https://doi.org/10.14776/piv.2022.29.e22
[2022] Skeletal dysplasia in adenosine deaminase deficiency
DOI: https://doi.org/10.1111/ped.15214
[2022] Novel compound heterozygous variants in the SLC39A7 gene in a Japanese girl with B-cell deficiency.
DOI: https://doi.org/10.1254/jpssuppl.95.0_3-o-129
[2022] <scp>Wiskott–Aldrich</scp> syndrome with normal‐sized platelets
DOI: https://doi.org/10.1111/ped.15453
[2022] Case report: Optimized ruxolitinib-based therapy in an infant with familial hemophagocytic lymphohistiocytosis type 3
DOI: https://doi.org/10.3389/fimmu.2022.977463
[2022] Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
DOI: https://doi.org/10.1007/s10875-022-01405-3
[2022] Phase II Study of a JAK1/2 Inhibitor Ruxolitinib for Systemic Chronic Active Epstein-Barr Virus Disease: An Investigator-Initiated Trial
DOI: https://doi.org/10.1182/blood-2022-168565
[2022] Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis
DOI: https://doi.org/10.1016/j.clim.2022.108933
[2022] Real‐world results with <scp>IgPro20</scp> for hypo‐ or agammaglobulinemia in Japan
DOI: https://doi.org/10.1111/ped.15362
[2022] Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases
DOI: https://doi.org/10.1007/s10875-022-01396-1
[2022] Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I
DOI: https://doi.org/10.3389/fimmu.2022.1020362
[2022] Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3
DOI: https://doi.org/10.1016/j.clim.2022.109104
[2022] Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
DOI: https://doi.org/10.1007/s10875-022-01312-7
[2022] Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19
DOI: https://doi.org/10.1007/s10875-022-01308-3
[2022] A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia
DOI: https://doi.org/10.1007/s10875-022-01304-7
[2022] Anti–Integrin αvβ6 Antibody as a Diagnostic Marker for Pediatric Patients With Ulcerative Colitis
DOI: https://doi.org/10.1053/j.gastro.2022.06.026
[2022] A retrospective survey of patients who discontinued participation in the JPLSG HLH-2004 clinical trial
DOI: https://doi.org/10.1007/s12185-022-03357-1
[2022] Preemptive hematopoietic cell transplantation for asymptomatic patients with X-linked lymphoproliferative syndrome type 1
DOI: https://doi.org/10.1016/j.clim.2022.108993
[2022] BRAF V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis
DOI: https://doi.org/10.3324/haematol.2021.279857
[2022] Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan
DOI: https://doi.org/10.3389/fimmu.2022.786375
[2022] Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20
DOI: https://doi.org/10.3389/fcimb.2021.787667
[2021] Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
DOI: https://doi.org/10.3389/fimmu.2021.786164

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AI 要約（直近 5 年の研究成果）

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関連研究室(8 件)

研究成果（100 件）

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