Cargando…

Combined Single Nucleotide Variants of ORAI1 and BLK in a Child with Refractory Kawasaki Disease

Kawasaki disease (KD) is a systemic vasculitis with an unknown etiology affecting young children. Although intravenous immunoglobulin (IVIG) plus acetylsalicylic acid is effective in most cases, approximately 10–20% of patients do not respond to this therapy. An 8-month-old boy was admitted to a loc...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kanda, Saki, Fujii, Yoshimitsu, Hori, Shin-ichiro, Ohmachi, Taichi, Yoshimura, Ken, Higasa, Koichiro, Kaneko, Kazunari
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8224368/ https://www.ncbi.nlm.nih.gov/pubmed/34064199 http://dx.doi.org/10.3390/children8060433

Ejemplares similares

Dysbiosis of the gut microbiota as a susceptibility factor for Kawasaki disease
por: Teramoto, Yoshiki, et al.
Publicado: (2023)

Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A
por: Sim, Bo Kyung, et al.
Publicado: (2018)

Variations in ORAI1 Gene Associated with Kawasaki Disease
por: Onouchi, Yoshihiro, et al.
Publicado: (2016)

Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population
por: Chen, Si, et al.
Publicado: (2015)

Replication and Meta-Analysis of GWAS Identified Susceptibility Loci in Kawasaki Disease Confirm the Importance of B Lymphoid Tyrosine Kinase (BLK) in Disease Susceptibility
por: Chang, Chia-Jung, et al.
Publicado: (2013)

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein
por: Delgado-Vega, Angélica M, et al.
Publicado: (2012)

BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder
por: Yin, Bo‐Wen, et al.
Publicado: (2021)

The Diagnostic Significance of Comorbidities of Congenital Heart Diseases, Low-Set Ears, and Intrauterine Growth Restriction in Neonates With Trisomies 13 and 18
por: Fujii, Yoshimitsu, et al.
Publicado: (2016)

Recurrent refractory Kawasaki disease
por: Costa Reis, P, et al.
Publicado: (2011)

Mimicry of Pre–B Cell Receptor Signaling by Activation of the Tyrosine Kinase Blk
por: Tretter, Theresa, et al.
Publicado: (2003)

The Effect of Inversion at 8p23 on BLK Association with Lupus in Caucasian Population
por: Namjou, Bahram, et al.
Publicado: (2014)

Association between TNFSF4 and BLK gene polymorphisms and susceptibility to allergic rhinitis
por: Shen, Yang, et al.
Publicado: (2017)

The Src-Family Kinases SRC and BLK Contribute to the CLDN6-Adhesion Signaling
por: Ichikawa-Tomikawa, Naoki, et al.
Publicado: (2023)

Similarities and Differences between the Orai1 Variants: Orai1α and Orai1β
por: Jardin, Isaac, et al.
Publicado: (2022)

The Blk pathway functions as a tumor suppressor in chronic myeloid leukemia stem cells
por: Zhang, Haojian, et al.
Publicado: (2012)

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
por: Jiang, Simon H., et al.
Publicado: (2019)

IgA Vasculitis: Influence of CD40, BLK and BANK1 Gene Polymorphisms
por: Batista Liz, Joao Carlos, et al.
Publicado: (2022)

Predicting Factors for Refractory Kawasaki Disease
por: Do, Young-Sun, et al.
Publicado: (2010)

Identifying association model for single-nucleotide polymorphisms of ORAI1 gene for breast cancer
por: Chang, Wei-Chiao, et al.
Publicado: (2014)

BANK1 and BLK Act through Phospholipase C Gamma 2 in B-Cell Signaling
por: Bernal-Quirós, Manuel, et al.
Publicado: (2013)

Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population
por: Ramírez-Bello, Julian, et al.
Publicado: (2020)

Prognostic significance of BLK expression in R-CHOP treated diffuse large B-cell lymphoma
por: Choi, Soyeon, et al.
Publicado: (2022)

Tyrosine phosphorylation of IRF3 by BLK facilitates its sufficient activation and innate antiviral response
por: Li, Wei-Wei, et al.
Publicado: (2023)

Our Evolving Understanding of Kawasaki Disease Pathogenesis: Role of the Gut Microbiota
por: Kaneko, Kazunari, et al.
Publicado: (2020)

Infliximab as rescue therapy in refractory Kawasaki disease
por: Rodríguez-González, Moisés, et al.
Publicado: (2014)

Refractory Kawasaki disease: diagnostic and management challenges
por: Duignan, Sophie, et al.
Publicado: (2019)

Cyclosporine for refractory Kawasaki disease with psoriasiform eruption
por: Leyendecker, Mara, et al.
Publicado: (2021)

Refractory Kawasaki Disease—a Challenge for the Pediatrician
por: Abraham, Deepu, et al.
Publicado: (2021)

Diagnostic Significance of Absence of Post-Feeding Contraction of the Gallbladder in Biliary Atresia: Two Case Reports
por: Kosuga, Masahiko, et al.
Publicado: (2023)

SAT081 Maturity Onset Diabetes Of The Young (MODY) Due To A New BLK Gene Mutation
por: Taha, Doris, et al.
Publicado: (2023)

Orai3 mediates Orai channel remodelling to activate fibroblast in pulmonary fibrosis
por: Yu, Changhui, et al.
Publicado: (2022)

The Association between Single-Nucleotide Polymorphisms of ORAI1 Gene and Breast Cancer in a Taiwanese Population
por: Chang, Wei-Chiao, et al.
Publicado: (2012)

Resolution of Giant Coronary Aneurisms in a Child With Refractory Kawasaki Disease Treated With Anakinra
por: Gambacorta, Alessandro, et al.
Publicado: (2020)

Infliximab Treatment for Refractory Kawasaki Disease in Korean Children
por: Song, Min Seob, et al.
Publicado: (2010)

Bakuchiol suppresses proliferation of skin cancer cells by directly targeting Hck, Blk, and p38 MAP kinase
por: Kim, Jong-Eun, et al.
Publicado: (2016)

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY
por: Laver, Thomas W., et al.
Publicado: (2022)

Assessing the Anthelmintic Candidates BLK127 and HBK4 for Their Efficacy on Haemonchus contortus Adults and Eggs, and Their Hepatotoxicity and Biotransformation
por: Zajíčková, Markéta, et al.
Publicado: (2022)

ORAI1 and ORAI3 in Breast Cancer Molecular Subtypes and the Identification of ORAI3 as a Hypoxia Sensitive Gene and a Regulator of Hypoxia Responses
por: Azimi, Iman, et al.
Publicado: (2019)

Infliximab as an alternative therapy for refractory adult onset Kawasaki disease: A case report
por: Kawaguchi, Takeshi, et al.
Publicado: (2018)

On optimizing therapies, Orai, and ORNs
por: Adler, Elizabeth M.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_nfdtav73ssqrq5kon39ebngvrm