Cargando…

An autoinflammatory syndrome with compound heterozygous MEFV and NOD2/CARD15 gene mutations successfully treated with tocilizumab

Detalles Bibliográficos
Autores principales:	Lee, Jeanie, Bizzocchi, Lilian, Jain, Ruchi, Tagoe, Clement E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Letter to the Editor (Case report)
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9113507/ https://www.ncbi.nlm.nih.gov/pubmed/35591901 http://dx.doi.org/10.1093/rap/rkac035

Ejemplares similares

A heterozygous variant in MEFV in a familial autoinflammatory syndrome with PAPA-like features
por: Jéru, I, et al.
Publicado: (2015)

Genetic variation in NOD1/CARD4 and NOD2/CARD15 immune sensors and risk of osteoporosis
por: Soyocak, Ahu, et al.
Publicado: (2020)

Sweet's syndrome in a patient with compound heterozygous mutations in the Mediterranean fever gene (MEFV)
por: Michelson, M, et al.
Publicado: (2015)

P03-005 - MEFV heterozygous mutations in PFAPA patients
por: Kozlova, A, et al.
Publicado: (2013)

Role of NOD2/CARD15 in coronary heart disease
por: El Mokhtari, Nour Eddine, et al.
Publicado: (2007)

CARD15/NOD2 Is Required for Peyer's Patches Homeostasis in Mice
por: Barreau, Frédérick, et al.
Publicado: (2007)

NOD2 Versus MEFV: Differential Diagnosis of Yao Syndrome and Familial Mediterranean Fever
por: Yao, Qingping, et al.
Publicado: (2021)

NOD2/CARD 15 gene mutations in patients with Familial Mediterranean Fever
por: Berkun, Y, et al.
Publicado: (2011)

Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain
por: Parkhouse, Rhiannon, et al.
Publicado: (2014)

Novel variants of MEFV and NOD2 genes in familial hidradenitis suppurativa: A case report
por: Jfri, Abdulhadi, et al.
Publicado: (2020)

Auto-inflammatory diseases in ileal pouch patients with NOD2/CARD15 mutations
por: Seril, Darren N., et al.
Publicado: (2016)

Detection of mutations in NOD2/CARD15 gene in Arab patients with Crohn's disease
por: Siddique, Iqbal, et al.
Publicado: (2021)

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases
por: Nomani, Hafsa, et al.
Publicado: (2023)

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

A new category of autoinflammatory disease associated with NOD2 gene mutations
por: Yao, Qingping, et al.
Publicado: (2011)

Clinical and Genetic Analysis of 22 Japanese Patients with Familial Mediterranean Fever: An Examination of MEFV and 10 Other Genes Related to Autoinflammatory Syndromes
por: Fujimoto, Kyoko, et al.
Publicado: (2020)

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

Description of a case of daily fever, developmental abnormalities, and a heterozygous M694I MEFV mutation
por: Pinto-Patarroyo, G, et al.
Publicado: (2015)

PReS-FINAL-2211: NOD2/CARD15 polymorphisms and clinical features in patients with non-infectious uveitis
por: Marrani, E, et al.
Publicado: (2013)

Crystal Structure of a Complex of NOD1 CARD and Ubiquitin
por: Ver Heul, Aaron M., et al.
Publicado: (2014)

Common NOD2/CARD15 variants are not associated with susceptibility or the clinicopathologic characteristics of sporadic colorectal cancer in Hungarian patients
por: Lakatos, Peter Laszlo, et al.
Publicado: (2007)

The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: a cohort study
por: Marrani, E., et al.
Publicado: (2015)

NOD1(CARD) Might Be Using Multiple Interfaces for RIP2-Mediated CARD-CARD Interaction: Insights from Molecular Dynamics Simulation
por: Maharana, Jitendra, et al.
Publicado: (2017)

The Tandem CARDs of NOD2: Intramolecular Interactions and Recognition of RIP2
por: Fridh, Veronica, et al.
Publicado: (2012)

MEFV mutations in systemic JIA
por: Aktay Ayaz, N, et al.
Publicado: (2008)

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant
por: Sato, Tomonobu, et al.
Publicado: (2021)

CARD15/NOD2, CD14 and Toll-like 4 Receptor Gene Polymorphisms in Saudi Patients with Crohn’s Disease
por: Azzam, Nahla, et al.
Publicado: (2012)

Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective
por: Ben-Zvi, I, et al.
Publicado: (2015)

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

Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis
por: Xu, Xia, et al.
Publicado: (2023)

Frequencies of the MEFV Gene Mutations in Azerbaijan
por: Huseynova, LS, et al.
Publicado: (2022)

A unifying molecular mechanism underlying the association of CARD14 alleles with autoinflammatory and T-cell mediated skin disorders
por: Berki, D, et al.
Publicado: (2015)

NOD1 and NOD2 Signaling in Infection and Inflammation
por: Moreira, Lilian O., et al.
Publicado: (2012)

Systemic autoinflammatory disorders: autoinflammatory and autoimmune disorders
por: Kim, Young Dae
Publicado: (2023)

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)

Long-Term Follow-Up, Association between CARD15/NOD2 Polymorphisms, and Clinical Disease Behavior in Crohn's Disease Surgical Patients
por: Giudici, Francesco, et al.
Publicado: (2021)

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency
por: Wang, Lan, et al.
Publicado: (2020)

P03-001 - PFAPA and MEFV genes
por: Salehzadeh, F, et al.
Publicado: (2013)

P01-004 – MEFV genes and FMF
por: Salehzadeh, F, et al.
Publicado: (2013)

OR2-002 – The risk of FMF in MEFV heterozygotes
por: Jéru, I, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_pdjtemlrhbuhumf89h3bmmilkq