A5012866508- Immunodeficiency and Autoimmune Disorders
- Inflammatory Myopathies and Dermatomyositis
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Eosinophilic Disorders and Syndromes
- Salivary Gland Disorders and Functions
- Systemic Lupus Erythematosus Research
- Neurogenetic and Muscular Disorders Research
- Whipple's Disease and Interleukins
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Lymphoma Diagnosis and Treatment
- Cytomegalovirus and herpesvirus research
- Fungal Infections and Studies
- T-cell and B-cell Immunology
- Vitamin C and Antioxidants Research
- Blood disorders and treatments
- Rheumatoid Arthritis Research and Therapies
- Hidradenitis Suppurativa and Treatments
- Autoimmune and Inflammatory Disorders
- Chronic Lymphocytic Leukemia Research
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Immune Cell Function and Interaction
- Diabetes and associated disorders
- Tuberculosis Research and Epidemiology
- Muscle Physiology and Disorders
Hokkaido University
2015-2025
Hokkaido University Hospital
2017-2024
NTT Medical Center
2024
Daido University
2023
Yokohama City University
2014
Kobe Children's Hospital
2014
Shinshu University
2014
Sapporo Medical University
2014
Kanagawa Children's Medical Center
2014
Ehime University
2014
Objective. Rapidly progressive interstitial lung disease (RP-ILD) is a rare but potentially fatal complication of JDM. The aim this study was to establish markers for the prediction and early diagnosis RP-ILD associated with
Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases characterized by chronic and recurrent Candida infections the skin, nails, oropharynx. Gain-of-function mutations in STAT1 were very recently shown to be responsible for autosomal-dominant or sporadic cases CMC. The reported have been exclusively localized coiled-coil domain, resulting impaired dephosphorylation STAT1. However, recent crystallographic analysis direct mutagenesis experiments...
Heterozygous gain-of-function (GOF) mutations of STAT1 are responsible for chronic mucocutaneous candidiasis disease (CMCD), one the primary immunodeficiency diseases characterized by susceptibility to Candida infection. To date, 30 aa changes have been reported: 21 in coiled-coil domain and 9 DNA-binding domain. In this study, we report two novel GOF p.K278E p.G384D Japanese CMCD patients. Ectopic expression these mutants HeLa cells was associated with increased phosphorylation mutant...
OTULIN-related autoinflammatory syndrome (ORAS), a severe disease, is caused by biallelic pathogenic variants of OTULIN, linear ubiquitin-specific deubiquitinating enzyme. Loss OTULIN attenuates ubiquitination inhibiting the ubiquitin chain assembly complex (LUBAC). Here, we report patient who harbors two rare heterozygous (p.P152L and p.R306Q). We demonstrated accumulation chains upon TNF stimulation augmented TNF-induced cell death in mesenchymal stem cells differentiated from...
The aim of our study is to clarify the association myositis-specific autoantibodies (MSAs) with clinical and laboratory features in Japanese patients juvenile idiopathic inflammatory myopathies (JIIMs).We retrospectively analyzed frequency MSAs their or findings 25 JIIMs Hokkaido district.Eighteen (72%) were positive for MSAs; seven anti-melanoma differentiation associated gene (MDA) 5 (28%), five anti-transcriptional intermediary factor (TIF)-1γ (20%), four anti-MJ/nuclear matrix protein...
This study aimed to investigate the clinical characteristics, treatment and prognosis of juvenile idiopathic inflammatory myopathies (JIIM) in Japan for each myositis-specific autoantibody (MSA) profile.A multicentre, retrospective was conducted using data patients with JIIM at nine paediatric rheumatology centres Japan. Patients MSA profiles, determined by immunoprecipitation stored serum from active stage, were included.MSA detected 85 96 cases eligible analyses. Over 90% this had one...
The clinical symptoms and complications of JDM differ depending on the type muscle-specific autoantibodies (MSAs) present. We aimed to identify protein expression profiles specific for MSAs that characterize various features by comprehensively analyzing proteins present in serum patients with JDM.We analysed sera from were positive anti-melanoma differentiation-associated 5 (MDA5) antibodies (n = 5), anti-nuclear matrix 2 (NXP2) 5) anti-transcriptional intermediary factor 1 alpha or gamma...
Orofacial granulomatosis (OFG) is a rare disease entity characterized by nonnecrotizing granulomatous inflammation in the oral and maxillofacial regions, typically recurrent or persistent edema, primarily lips occasionally gingiva. OFG often associated with Crohn's sarcoidosis, an accurate diagnosis requires systemic examination of patients. Pediatric patients possess unique conditions where dental plaque rapidly forms, especially during tooth replacement due to crowding. Moreover,...
X-linked NF-κB essential modulator (NEMO) deficiency is a primary immunodeficiency characterized by combined and ectodermal dysplasia. Monocytes from the patients demonstrate severely impaired response to tissue necrosis factor or lipopolysaccharide, whereas hyper-inflammation found in some patients. Juvenile myelomonocytic leukemia (JMML) pediatric malignancy caused hypersensitivity granulocyte-macrophage colony-stimulating (GM-CSF) aberrant RAS signaling activation. Patients with JMML...
Objectives: Acute leukemia often causes osteoarthralgia. The aim of this study is characterization leukemia-associated osteoarthralgia in comparison with juvenile idiopathic arthritis (JIA). Methods: We retrospectively reviewed clinical records 31 patients acute and 13 articular JIA diagnosed between January 2008 March 2013. Clinical laboratory findings at the initial examination were compared among three groups; 10 21 without groups. Results: Eleven leukemic (35%) had before diagnosis...
The purpose of this study is to evaluate systemic disease activity pediatric Sjögren's syndrome (SS) using European League Against Rheumatism (EULAR) index (ESSDAI).We retrospectively reviewed medical records patients with SS who have been diagnosed according 1999 Japanese diagnostic criteria for before 16 years old at KKR Sapporo Medical Center, Hokkaido University Hospital, and affiliated hospitals. We analyzed clinical laboratory data calculated ESSDAI both diagnosis peak...
Abstract Chronic granulomatous disease ( CGD ) is a primary immunodeficiency characterized by recurrent life‐threatening bacterial and fungal infections with granuloma formation. Species of the genus F usarium are opportunistic environmental microorganisms that rarely pathogenic in humans. We report here first case X ‐linked complicated epidural abscess caused falciforme infection. The abscesses extended along dura mater for >7 years finally resulted fatal meningitis cervical myelitis....
Palindromic rheumatism (PR), a rare disease in children, is characterized by recurrent arthritis or periarthritis and asymptomatic interval. We report evolution of PR to juvenile idiopathic Japanese girl with heterozygous complex L110P-E148Q allele MEFV gene. Poor response colchicine alone suggests that the substitution could increase susceptibility rather than caused associated atypical Familial Mediterranean Fever. Weekly methotrexate choice for such cases.
ABSTRACT Symptomatic vitamin C deficiency, scurvy, is a relatively rare disease in developed countries, but it has been reported patients with autism spectrum disorder or developmental delay who tend to have selective diets. Patients scurvy often demonstrate musculoskeletal manifestations unknown pathophysiology. Herein, we report case of an 11-year-old boy presented iron-deficiency anaemia, systemic osteomyelitis, myositis predominantly the lower extremities, and right ventricular volume...