Cargando…

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome

BACKGROUND: Blau syndrome (BS) is a rare autoinflammatory disorder with NOD2 gain-of-function mutation and characterized by autoactivation of the NFκB pathway. Classically considered a disease of high penetrance, reports on NOD2 mutations underlining BS with incomplete penetrance is limited. CASE PR...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chang, Shao-Yu, Kambe, Naotomo, Fan, Wen-Lang, Huang, Jing-Long, Lee, Wen-I, Wu, Chao-Yi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531522/ https://www.ncbi.nlm.nih.gov/pubmed/36192768 http://dx.doi.org/10.1186/s12969-022-00743-1

Ejemplares similares

NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination
por: Arakawa, Akiko, et al.
Publicado: (2021)

Tofacitinib, a suppressor of NOD2 expression, is a potential treatment for Blau syndrome
por: Ueki, Yoko, et al.
Publicado: (2023)

Potential Benefits of TNF Targeting Therapy in Blau Syndrome, a NOD2-Associated Systemic Autoinflammatory Granulomatosis
por: Matsuda, Tomoko, et al.
Publicado: (2022)

Sustained Surface ICAM-1 Expression and Transient PDGF-B Production by Phorbol Myristate Acetate-Activated THP-1 Cells Harboring Blau Syndrome-Associated NOD2 Mutations
por: Nishiyama, Mizuho, et al.
Publicado: (2021)

NOD2 mosaicism in Blau syndrome
por: Mensa-Vilaro, A, et al.
Publicado: (2015)

Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function
por: Mao, Liming, et al.
Publicado: (2022)

PReS-FINAL-2201: A P268S NOD mutation in one Blau patient
por: Pardeo, M, et al.
Publicado: (2013)

A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome
por: Jain, Lubhani, et al.
Publicado: (2016)

Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome
por: Ikeda, Kei, et al.
Publicado: (2014)

NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome
por: Xiang, Haotian, et al.
Publicado: (2012)

P03-012 - A P268S NOD2 mutation in one Blau patient
por: Pardeo, M, et al.
Publicado: (2013)

A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
por: Kim, Woojoong, et al.
Publicado: (2016)

Case Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome
por: Jensen, Mary Ellen, et al.
Publicado: (2023)

Blau Syndrome-Related CARD15/NOD2 Mutations Are Not Linked to Idiopathic Uveitis in Spanish Patients
por: Rodríguez-Pérez, Noelia, et al.
Publicado: (2009)

Emperipolesis and cell death in NOD2-related Blau Syndrome and Crohn’s disease
por: Janssen, Carl EI, et al.
Publicado: (2011)

A New Mutation in Blau Syndrome
por: Zeybek, Cengiz, et al.
Publicado: (2015)

Mosaicism and incomplete penetrance of PCDH19 mutations
por: Liu, Aijie, et al.
Publicado: (2019)

Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators
por: Parkhouse, Rhiannon, et al.
Publicado: (2014)

A new mutation in blau syndrome: case report
por: Zeybek, Cengiz, et al.
Publicado: (2014)

Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease
por: Caso, Francesco, et al.
Publicado: (2015)

A Case of Blau Syndrome
por: Chauhan, Krati, et al.
Publicado: (2014)

Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis
por: Iwasaki, Tomoyuki, et al.
Publicado: (2016)

Brookhaven: Spin result underlined
Publicado: (1990)

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome
por: Chen, Jing, et al.
Publicado: (2019)

Sinus of valsalva aneurysm in Blau's syndrome
por: Mourad, Faisal, et al.
Publicado: (2010)

Identification of Blau Syndrome disease signatures
por: Foley, KP, et al.
Publicado: (2011)

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report
por: Dziedzic, Magdalena, et al.
Publicado: (2017)

Hysteresis of gating underlines sensitization of TRPV3 channels
por: Liu, Beiying, et al.
Publicado: (2011)

NPM1 Mutational Status Underlines Different Biological Features in Pediatric AML
por: Tregnago, Claudia, et al.
Publicado: (2021)

Aortoarteritis and cardiomyopathy in a child with Blau Syndrome
por: Khubchandani, RP, et al.
Publicado: (2011)

65. Blau syndrome treated with sequential biologics
por: Yi Yong, Cee, et al.
Publicado: (2018)

72. A retrospective diagnosis of Blau syndrome
por: Ellis, Jessica, et al.
Publicado: (2018)

Blau syndrome: An under-reported condition in India?
por: Agarwal, A, et al.
Publicado: (2022)

Clinical phenotype and CARD15 gene mutation with Blau Syndrome in Chinese children and their parents
por: Li, C, et al.
Publicado: (2008)

A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes
por: Okazaki, Fumiko, et al.
Publicado: (2021)

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance
por: Kurban, Mazen, et al.
Publicado: (2011)

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
por: Mkaouar, Rahma, et al.
Publicado: (2021)

CD59 Underlines the Antiatherosclerotic Effects of C-Phycocyanin on Mice
por: Li, Bing, et al.
Publicado: (2013)

Les roques i el mar, el blau
por: Espriu, Salvador
Publicado: (1996)

Blau Syndrome, the prototypic auto-inflammatory granulomatous disease
por: Wouters, Carine H, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_o4kkkonivfakbdp17ffadflbo7