Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants

被引:0
作者
Yoshitaka Honda
Yukako Maeda
Kazushi Izawa
Takeshi Shiba
Takayuki Tanaka
Haruna Nakaseko
Keisuke Nishimura
Hiroki Mukoyama
Masahiko Isa-Nishitani
Takayuki Miyamoto
Hiroshi Nihira
Hirofumi Shibata
Eitaro Hiejima
Osamu Ohara
Junko Takita
Takahiro Yasumi
Ryuta Nishikomori
机构
[1] Kyoto University Graduate School of Medicine,Department of Pediatrics, Faculty of Medicine
[2] Tenri Hospital,Department of Pediatrics
[3] Otsu Red Cross Hospital,Department of Pediatrics
[4] Aichi Children’s Health and Medical Center,Department of Infection and Immunology
[5] Kurashiki Central Hospital,Department of Endocrinology and Rheumatology
[6] Kyoto University Graduate School of Medicine,Department of Rheumatology and Clinical Immunology
[7] Kazusa DNA Research Institute,Department of Pediatrics and Child Health
[8] Kurume University School of Medicine,undefined
来源
Journal of Clinical Immunology | 2021年 / 41卷
关键词
Pyrin-associated autoinflammatory disease; classical FMF; PAAND; FMF-like disease; pyrin inflammasome; in vitro functional assay;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1187 / 1197
页数:10
相关论文
共 133 条
[11]  
Consortium TFF(2016)Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS Nat Immunol 17 914-E4866
[12]  
Bernot A(2016)Site-specific phosphorylation and microtubule dynamics control pyrin inflammasome activation Proc National Acad Sci 113 E4857-14389
[13]  
Clepet C(2016)Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in pyrin inflammasome activation Proc National Acad Sci 113 14384-968
[14]  
Dasilva C(2019)Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients Embo Mol Med 11 e10547-36
[15]  
Devaud C(2020)Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever Ann Rheum Dis 79 960-610
[16]  
Petit J-L(2014)NbClust: an R package for determining the relevant number of clusters in a data set J Stat Softw 61 1-213
[17]  
Touitou I(2013)Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes Ann Rheum Dis 74 603-13
[18]  
Moghaddas F(2013)A very rare cause of Pleuritic chest pain: bilateral Pleuritis as a first sign of familial Mediterranean fever Case Reports Pulmonol 2013 315751-184
[19]  
Llamas R(2014)Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations Arthritis Res Ther 16 439-1441.e12
[20]  
Nardo DD(2016)Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue—a case series and genetic exploration Rheumatology 56 209-912