Tomoki Kawai
A5020379335- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- NF-κB Signaling Pathways
- T-cell and B-cell Immunology
- Inflammasome and immune disorders
- interferon and immune responses
- Autoimmune and Inflammatory Disorders Research
- Immune Response and Inflammation
- Tryptophan and brain disorders
- Cell Adhesion Molecules Research
- Alzheimer's disease research and treatments
- Genetics and Neurodevelopmental Disorders
- Parvovirus B19 Infection Studies
- Kawasaki Disease and Coronary Complications
- Peptidase Inhibition and Analysis
- IL-33, ST2, and ILC Pathways
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- SARS-CoV-2 and COVID-19 Research
- Renal Transplantation Outcomes and Treatments
- Autoimmune Bullous Skin Diseases
- COVID-19 Clinical Research Studies
- Cholinesterase and Neurodegenerative Diseases
- Connective tissue disorders research
- Gut microbiota and health
- CRISPR and Genetic Engineering
Fujita Health University
2021-2025
National Institute of Allergy and Infectious Diseases
2020-2025
National Institutes of Health
2020-2025
Shizuoka Children's Hospital
2023
Immune Deficiency Foundation
2022
Kyoto University
2006-2018
Kyoto University Hospital
2013-2017
Kobe City Medical Center General Hospital
2009
Hitachi General Hospital
2009
Osaka City University
2001-2006
Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory disease. Although heterozygous germline gain-of-function NLRP3 mutations are cause of this disease, conventional genetic analyses fail to detect disease-causing in ∼40% patients. Since somatic mosaicism has been detected several mutation-negative NOMID/CINCA syndrome patients, we undertook study...
Abstract Objective Blau syndrome and its sporadic counterpart, early‐onset sarcoidosis (EOS), share a phenotype featuring the symptom triad of skin rash, arthritis, uveitis. This systemic inflammatory granulomatosis is associated with mutations in NOD2 gene. The aim this study was to describe clinical manifestations syndrome/EOS Japanese patients determine whether genotype basal NF‐κB activity predict phenotype. Methods Twenty were recruited. Mutated categorized based on activity, which...
: Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous articular (CINCA) are dominantly inherited diseases associated to gain-of-function NLRP3 mutations included in the cryopyrin-associated periodic syndromes (CAPS). A variable degree of somatic mosaicism has been detected ≈35% patients with CINCA. However, no data currently available regarding relevance this mechanism other CAPS phenotypes.To evaluate as disease-causing...
Mucosal-associated invariant T (MAIT) cells are innate-like involved in the homeostasis of mucosal immunity; however, their role inflammatory bowel disease (IBD) is unclear.Flow cytometry was used to enumerate peripheral blood MAIT 88 patients with ulcerative colitis (UC), 68 Crohn's (CD), and 57 healthy controls. Immunohistochemistry identified intestinal tissue samples from UC (n = 5) CD 10), control colon small intestine 9) samples. In addition, expression activated caspases by 14 15 CD,...
Abstract The study of early T-cell development in humans is challenging because limited availability thymic samples and the limitations vitro differentiation assays. We used an artificial organoid (ATO) platform generated by aggregating a DLL4-expressing stromal cell line (MS5-hDLL4) with CD34+ cells isolated from bone marrow or mobilized peripheral blood to patients carrying hematopoietic intrinsic defects that cause lymphopenia. found AK2 deficiency associated decreased viability block...
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to large group of RAG-mutated patients, we aimed at characterizing the immunopathology associated each phenotype. Although defective T B cell development is common all phenotypes, patients hypomorphic RAG variants generate cells signatures immune dysregulation produce autoantibodies broad range self-antigens, including type I interferons....
A novel series of benzofuran derivatives as potential positron emission tomography (PET) tracers targeting amyloid plaques in Alzheimer's disease (AD) were synthesized and evaluated. The syntheses benzofurans successfully achieved by an intramolecular Wittig reaction between triphenylphosphonium salt 4-nitrobenzoyl chloride. When vitro binding studies using AD brain gray matter homogenates carried out with a derivatives, all the examined displayed high affinities Ki values subnanomolar...
The recombination-activating genes (RAG) 1 and 2 are indispensable for diversifying the primary B cell receptor repertoire pruning self-reactive clones via editing in bone marrow; however, impact of RAG1/RAG2 on peripheral tolerance is unknown. Partial RAG deficiency (pRD) manifesting with late-onset immune dysregulation represents an 'experiment nature' to explore this conundrum. By studying development subset-specific repertoires pRD, we demonstrate that reduced activity impinges through...
Chronic infantile neurological cutaneous and articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory caused by heterozygous germline gain-of-function mutation in the NLRP3 gene. We recently found high incidence of somatic mosaicism apparently mutation-negative CINCA/NOMID patients using subcloning subsequent capillary DNA sequencing. It important to rapidly diagnose ensure proper treatment....
Patients with hypomorphic mutations in the RAG1 or RAG2 gene present either Omenn syndrome atypical combined immunodeficiency a wide phenotypic range. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but data are scarce. We report on worldwide cohort of 60 patients RAG variants who underwent HSCT, 78% whom experienced infections (29% active at HSCT), 72% had autoimmunity, and 18% granulomas pretransplant. These complications frequently associated organ damage. Eight...
Abstract Background Adverse experiences such as bullying and abuse in adolescence increase the risk of developing psychiatric diseases adulthood. However, it is poorly understood how adverse lead to pathogenesis diseases. Intestinal homeostasis gut-brain axis susceptible adolescent stress. Aims & Objectives In present study, we investigated whether an social isolation (SI) after weaning induces behavioral abnormalities through disrupted colonic function. Method After mice were exposed SI...
We investigated the genetic cause of disease in five affected individuals from two unrelated families with an autosomal dominant pattern invasive Streptococcus pneumoniae infection associated a clinical phenotype specific antibody deficiency. In Family A, male siblings presented at <5 years sepsis due to S. pneumoniae. The father had history meningitis and recurrent pneumonias, female sibling less severe infections. B, during infancy no family immunodeficiency. All patients...
Association between cytochrome P450 (CYP) 3A4*1G genotype of donors (n=412) and/or recipients (n=410), and the pharmacokinetics tacrolimus risk acute cellular rejection was examined in Japanese living-donor liver transplant patients 2004 2011. The concentration/dose (C/D) ratio carrying graft with CYP3A4*1/*1 significantly higher during 7 d after surgery than that CYP3A4*1/*1G (214 vs. 157 [ng/mL]/[mg/kg/day], p<0.01). After postoperative day 8, no significant difference observed among...
Summary Haemophagocytic lymphohistiocytosis ( HLH ) is a life‐threatening syndrome of immune dysregulation and classified as primary or secondary according to the underlying aetiology. The treatment strategies recommended for these two groups differ substantially; however, it thought be impossible predict causes using conventional laboratory tests. Recent studies show that serum levels soluble interleukin‐2 receptor sIL 2R) ferritin are useful differentiating some forms . present study...