A5016475153- Acute Lymphoblastic Leukemia research
- Hematopoietic Stem Cell Transplantation
- Acute Myeloid Leukemia Research
- Childhood Cancer Survivors' Quality of Life
- Immunodeficiency and Autoimmune Disorders
- Sarcoma Diagnosis and Treatment
- Lymphoma Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA modifications and cancer
- Medical Imaging and Pathology Studies
- Eosinophilic Disorders and Syndromes
- CAR-T cell therapy research
- Histiocytic Disorders and Treatments
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Neutropenia and Cancer Infections
- Vascular Malformations and Hemangiomas
- Bone and Joint Diseases
- Autoimmune and Inflammatory Disorders Research
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Antifungal resistance and susceptibility
- Blood disorders and treatments
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
University of the Ryukyus
2015-2025
University of the Ryukyus University Hospital
1991-2024
Okinawa Red Cross Hospital
2023-2024
Ryukoku University
2020-2022
Aichi Medical University
2001-2011
Significance Chronic mucocutaneous candidiasis (CMC) is defined as persistent or recurrent infections of the skin and/or mucosae by commensal fungi Candida genus. It often seen in patients with T-cell deficiencies, whether inherited acquired, who typically suffer from multiple infectious diseases. Rare are otherwise healthy and display isolated CMC, which segregates a Mendelian trait. In 2011, we described first genetic cause autosomal recessive (AR), complete IL-17 receptor A (IL-17RA)...
CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD as result of impaired dephosphorylation STAT1. We aimed identify characterize in patients develop simple diagnostic assay CMCD. Genetic analysis was performed their relatives. The identified were immunoblot reporter using transient gene expression experiments. Patients' leukocytes are...
Mucopolysaccharidosis IVA (MPS IVA) is one of the lysosomal storage diseases. It caused by deficiency N-acetylgalactosamine-6-sulfate sulfatase. Deficiency this enzyme leads to accumulation specific glycosaminoglycans keratan sulfate and chondroitin-6-sulfate. This has a direct impact on cartilage bone development, resulting in systemic skeletal dysplasia. There no curative therapy for report describes long-term therapeutic efficacy 15-year-old boy with severe form MPS who received...
Steroid-induced osteonecrosis (ON) is a challenging complication encountered during modern chemotherapy for childhood acute lymphoblastic leukemia (ALL). We retrospectively assessed the incidence of ON and its risk factors in total 1095 patients enrolled 3 consecutive Japanese Children's Cancer Leukemia Study Group ALL studies (ALL941 [1994 to 2000], n=464; ALL2000 [2000 2004], n=305; ALL2004 [2004 2010], n=326). was diagnosed 16 patients, whom 15 were symptomatic. The cumulative 0.76%...
We report the long-term morbidity and mortality of 105 pediatric patients who developed chronic graft-versus-host disease (cGVHD) after allogeneic hematopoietic stem cell transplantation (HSCT). According to consensus criteria National Institutes Health, global severity cGVHD was mild in 26 (25%), moderate 30 (29%), severe 49 (47%). Patients with had a significantly lower cumulative incidence remission higher probability continuing at 8 years from diagnosis compared those or cGVHD. The...
Germline mutations in CBL have been identified patients with Noonan syndrome-like phenotypes, while juvenile myelomonocytic leukemia (JMML) harbors duplication of a germline CBL, resulting acquired isodisomy. The association between moyamoya disease and syndrome carrying PTPN11 mutation has recently reported. We present patient JMML who developed neovascular glaucoma. Our exhibited phenotype. Genetic analysis revealed isodisomy heterozygous CBL. This is rare case associated disease....
The majority of minimal residual disease (MRD)-positive patients with acute lymphoblastic leukemia (ALL) have poor outcomes. ALL2000 study was performed to evaluate the efficacy augmented chemotherapy based on MRD-restratification in childhood ALL.Between 2000 and 2004, 305 eligible precursor B or T-cell ALL were enrolled study. ALL941-based therapy protocol utilized PCR MRD assays using Immunoglobulin receptor gene rearrangements. They initially stratified into three risk-groups according...
Abstract BACKGROUND Familial hemophagocytic lymphohistiocytosis HLH (FHL) is fatal, unless patients are rescued with hematopoietic stem cell transplantation (SCT). Although the molecular identification of FHL now possible at least in part from perforin gene study, many cases escape detection or never tested due to lack specific hallmarks, making diagnosis difficult. To authors' knowledge, it remains be determined whether persistently low natural killer (NK) activity and a high incidence...
The role of allogeneic hematopoietic stem cell transplantation (HSCT) for infants with acute lymphoblastic leukemia (ALL) and KMT2A gene rearrangement (KMT2A-r) is controversial in terms both its efficacy potential late toxicities. In Japanese Pediatric Leukemia/Lymphoma Study Group trial MLL-10, by introducing intensive chemotherapy, indication HSCT was restricted to patients high-risk (HR) features only (KMT2A-r either age <180 days or presence central nervous system leukemia). Of the 56...
Blastic NK cell lymphoma/leukemia is a rare and highly malignant neoplasia in both adults children. It characterized by lymphoblastoid morphology without cytoplasmic granules immature immunophenotypes (CD56+, CD57-, CD16-). has predilection for extranodal organ involvement, the prognosis of affected patients extremely poor under current chemotherapy. We present 14-year-old girl who was diagnosed as having blastic leukemia with mediastinal, pleural, pericardial involvement. Immunophenotyping...
Abstract Background Pirarubicin (tetrahydropyranyl‐adriamycin: THP) is a derivative of doxorubicin with reportedly less cardiotoxicity in adults. However no studies children treated THP have been reported. This study was performed to assess the THP‐induced for acute lymphoblastic leukemia (ALL). Patients and Methods comprised 61 asymptomatic patients aged from 7.6 25.7 years old. Median follow‐up time after completion anthracycline treatment 8.1 (range: 1.7–12.5). The cumulative dose ranged...
Abstract Background Donor mixed chimerism (MC) is an increasing problem after hematopoietic stem cell transplantation (HSCT) for nonmalignant diseases. Procedure In this study, a self‐administered questionnaire was used to retrospectively compare efficacy and safety in 49 patients undergoing second HSCT (n = 13) or donor lymphocyte infusion (DLI; n 36) as treatment MC. Results The response rate DLI of with secondary graft failure (GF) (25.0%) significantly lower than that without GF (81.3%;...
In the AML-05 clinical trial conducted by Japanese Pediatric Leukemia/Lymphoma Group from 2006 to 2010, children with high-risk acute myeloid leukemia (HR AML) received allogeneic hematopoietic stem cell transplantation (allo-HSCT) at first complete remission (CR1). The aim of this study was investigate impact allo-HSCT on outcome HR AML. Patients either monosomy 7, 5q-, t(16;21), Ph1, FLT3-ITD, or induction failure after course chemotherapy were eligible for transplant. Of 53 AML, 51...
Interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency (OMIM #607676) is a rare primary immunodeficiency of innate immune defect. We identified 10 patients from 6 families with IRAK4 in Japan, and analyzed the clinical characteristics this disease. Nine had homozygous c.123_124insA mutation, 1 patient another nonsense mutation (547C>T). Umbilical cord separation occurred on 14th day after birth or thereafter. Two no severe infections owing to prophylactic antibiotic treatment. Severe...
Severe congenital neutropenia (SCN) is characterized by chronic with recurrent infections from early infancy and a predisposition to myelodysplastic syndrome/acute myeloid leukemia (AML). Allogeneic hematopoietic stem cell transplantation (HSCT) the only curative treatment for patients SCN who develop syndrome/AML. We report an 8-year-old girl carrying ELANE mutation that had been refractory granulocyte colony-stimulating factor. The patient experienced then developed AML. counts of leukemic...
Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 IDH2) mutations and characterized multiple enchondromas along with hemangiomas. Malignant transformation of to chondrosarcomas secondary neoplasms, such as brain tumors acute myeloid leukemia, are serious complications. A 15-year-old female developed B-cell precursor lymphoblastic leukemia (BCP-ALL). mutation in IDH1 was detected hemangioma leukemic cells. KRAS deletion IKZF1 were...
To evaluate the clinical implications of CD45 expression in acute childhood lymphoblastic leukemia (ALL), we measured blast cells from 133 untreated patients with B-precursor ALL (n = 118) or T-ALL 15). (> 20%) was detected all 15 cases (100%) T-ALL, and 101 (86%) ALL. In 122 cases, fluorescence intensity as a relative value; ratio average linear values (RALV) on blasts to that CD3-positive T-lymphocytes same specimen. The more intense than (RALV, mean +/- SE: 0.230 0.04 vs. pro-B 0.150...