Kyoto University · 생화학·유전·분자생물학
Kazushi Izawa 교수의 연구실은 주로 면역학적 질환과 유전적 변이가 연관된 염증성 질환의 분자 기전을 규명하는 데 초점을 맞추고 있습니다. 특히 EBV 감염 관련 B세포 이상, CD27/CD70 신호 경로의 기능 장애, NLRP3 유전자 소마티즘 등 고유한 유전적 변이가 초래하는 자가면역성 및 염증성 질환의 메커니즘을 연구하고 있습니다. 또한, STING 경로의 이환 기전과 type I 인터페론 시그니처의 임상적 의미를 탐구하며, 유전적 소인과 면역 반응 이상 간의 상관관계를 규명하고자 합니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
We provide vector-like gauge theories which break supersymmetry dynamically.
Epstein-Barr virus (EBV) infection in humans is a major trigger of malignant and nonmalignant B cell proliferations. CD27 is a co-stimulatory molecule of T cells, and inherited CD27 deficiency is characterized by high susceptibility to EBV infection, though the underlying pathological mechanisms have not yet been identified. In this study, we report a patient suffering from recurrent EBV-induced B cell proliferations including Hodgkin's lymphoma because of a deficiency in CD70, the ligand of CD2
Chronic infantile neurological cutaneous and articular syndrome (CINCA), also known as neonatal-onset multisystem inflammatory disease (NOMID), is a dominantly inherited systemic autoinflammatory disease and is caused by a heterozygous germline gain-of-function mutation in the NLRP3 gene. We recently found a high incidence of NLRP3 somatic mosaicism in apparently mutation-negative CINCA/NOMID patients using subcloning and subsequent capillary DNA sequencing. It is important to rapidly diagnose s
Nonlinear gauge theory is a gauge theory based on a nonlinear Lie algebra (finite W algebra) or a Poisson algebra, which yields a canonical star product for deformation quantization as a correlator on a disk. We pursue nontrivial deformation of topological gauge theory with conjugate scalars in two dimensions. This leads uniquely to a two-dimensional nonlinear gauge theory, which implies its essential uniqueness. We also consider a possible generalization to higher dimensions.
V242G, a novel COPA variant, was found in 4 patients from one family. In gene-targeted mice with the V242G variant, interstitial lung disease was recapitulated and augmented responses of the STING pathway, leading to an increase in type I IFN production, were demonstrated.
Half of the patients examined in this study, with undifferentiated inflammatory diseases, clinically quiescent A20 haploinsufficiency, or idiopathic pulmonary hemosiderosis, had an elevated type I IFN signature.
This study provides one of the largest epidemiologic data sets for CAPS. Although early initiation of anti-IL-1 treatment with canakinumab is beneficial for improving disease prognosis, some patients do not achieve remission despite a high serum concentration of canakinumab. Moreover, IBD may develop in CAPS after canakinumab treatment.
