Cargando…

A Case of Familial Cold Autoinflammatory Syndrome with De Novo NLRP3 Mutation

Detalles Bibliográficos
Autores principales:	Zhang, Wenqing, Yao, Zhirong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Dermatological Association; The Korean Society for Investigative Dermatology 2021
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082005/ https://www.ncbi.nlm.nih.gov/pubmed/33935466 http://dx.doi.org/10.5021/ad.2021.33.2.198

Ejemplares similares

Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation
por: Borghini, S, et al.
Publicado: (2011)

Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn
por: Xie, Mingyu, et al.
Publicado: (2023)

NLRP12 and IL36RN mutations in a Portuguese woman with autoinflammatory syndrome
por: Antunes-Duarte, Sofia, et al.
Publicado: (2022)

NLRP1 mutations cause autoinflammatory diseases in human
por: Grandemange, S, et al.
Publicado: (2015)

A unique presentation of NLRP3-associated autoinflammatory disease: case report
por: Ducharme-Bénard, Stéphanie, et al.
Publicado: (2022)

A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndrome
por: Kinjo, N, et al.
Publicado: (2015)

NLRP12- associated autoinflammatory disorder: case report
por: Volpe, Giuseppina, et al.
Publicado: (2014)

Autoinflammatory Recurrent Pericarditis Associated with a New NLRP12 Mutation in a Male Adolescent
por: Cinteza, Eliza, et al.
Publicado: (2023)

The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases
por: de Torre-Minguela, Carlos, et al.
Publicado: (2017)

New retinal findings in NLRP3-associated autoinflammatory disease
por: Wei, Zhangwanyu, et al.
Publicado: (2023)

Frightening Fever: Familial Cold Autoinflammatory Syndrome 2 (FCAS-2) with Macrophage Activation Syndrome (MAS)
por: Pati, Sananda, et al.
Publicado: (2022)

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies
por: Moltrasio, Chiara, et al.
Publicado: (2022)

An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
por: Caseley, Emily A., et al.
Publicado: (2021)

Coronavirus Disease 2019 in a Patient With a Systemic Autoinflammatory Syndrome due to an NLRC4 Inflammasomopathy
por: Duncan-Lowey, Jeffrey K, et al.
Publicado: (2021)

NLRP12-associated systemic autoinflammatory diseases in children
por: Wang, Hui-fang
Publicado: (2022)

Clinical heterogeneity of NLRP12-associated autoinflammatory diseases
por: Li, Yue, et al.
Publicado: (2022)

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
por: Berner, Jakob, et al.
Publicado: (2023)

Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
por: Scheffel, Jörg, et al.
Publicado: (2020)

Cerebral autoinflammatory disease treated with anakinra
por: Jang, Yoonhyuk, et al.
Publicado: (2018)

Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature
por: Zhou, Yu, et al.
Publicado: (2022)

Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
por: Meng, Tianli, et al.
Publicado: (2021)

Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease
por: Oziębło, Dominika, et al.
Publicado: (2022)

Neutrophil-specific gain-of-function mutations in Nlrp3 promote development of cryopyrin-associated periodic syndrome
por: Stackowicz, Julien, et al.
Publicado: (2021)

Autoinflammatory gene mutations associated with eosinophilia and asthma
por: Alotaibi, Bashayr M., et al.
Publicado: (2023)

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype
por: De Jesus, Adriana Almeida, et al.
Publicado: (2014)

Anakinra treatment for refractory cerebral autoinflammatory responses
por: Jang, Yoonhyuk, et al.
Publicado: (2022)

Behçet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation?
por: Liu, Jinjing, et al.
Publicado: (2021)

A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma
por: Rainger, Joe, et al.
Publicado: (2017)

Comparison of De Novo Assembly Strategies for Bacterial Genomes
por: Zhang, Pengfei, et al.
Publicado: (2021)

Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India
por: Ghosh, Kanjaksha, et al.
Publicado: (2019)

JT002, a small molecule inhibitor of the NLRP3 inflammasome for the treatment of autoinflammatory disorders
por: Ambrus-Aikelin, Geza, et al.
Publicado: (2023)

Hypothesis: Febrile infection‐related epilepsy syndrome is a microglial NLRP3 inflammasome/IL‐1 axis‐driven autoinflammatory syndrome
por: Lin, Wei‐Sheng, et al.
Publicado: (2021)

Muckle–Wells syndrome in an Indian family associated with NLRP3 mutation
por: Abdulla, MC, et al.
Publicado: (2015)

The Relationship between NALP3 and Autoinflammatory Syndromes
por: Campbell, Lorna, et al.
Publicado: (2016)

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
por: Torres, Alcy, et al.
Publicado: (2018)

A 9-Year-Old Patient with Recurrent Fever, Urticarial Rash and Demyelinating Brain Lesions: NLRP3-Autoinflammatory Disease in Ecuador
por: Herrera, Cristina N
Publicado: (2022)

A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia
por: De Mingo Alemany, María Carmen, et al.
Publicado: (2020)

Is Still's Disease an Autoinflammatory Syndrome?
por: Rossi-Semerano, Linda, et al.
Publicado: (2012)

Autoinflammatory syndromes: diagnosis and management
por: De Sanctis, Sara, et al.
Publicado: (2010)

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome—clinical presentation of a newly described somatic, autoinflammatory syndrome
por: Alhomida, Faris, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_7s3ej8098dvk74nnteidcs0t84