Cargando…

Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation

Detalles Bibliográficos
Autores principales:	SHIRAISHI, Ken, SAYAMA, Koji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Society for Publication of Acta Dermato-Venereologica 2022
Materias:	Short Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9574674/ https://www.ncbi.nlm.nih.gov/pubmed/35229164 http://dx.doi.org/10.2340/actadv.v102.2077

Ejemplares similares

A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations
por: Nakamichi, Seiko, et al.
Publicado: (2018)

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

The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients
por: Gomes, Sonia Melo, et al.
Publicado: (2014)

Cryo-sensitive aggregation triggers NLRP3 inflammasome assembly in cryopyrin-associated periodic syndrome
por: Karasawa, Tadayoshi, et al.
Publicado: (2022)

CARD8 is a negative regulator for NLRP3 inflammasome, but mutant NLRP3 in cryopyrin-associated periodic syndromes escapes the restriction
por: Ito, Sayaka, et al.
Publicado: (2014)

Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes
por: Samson, Jenny Mae, et al.
Publicado: (2020)

Unified Modeling of Familial Mediterranean Fever and Cryopyrin Associated Periodic Syndromes
por: Bozkurt, Yasemin, et al.
Publicado: (2015)

Unified modeling of Familial Mediterranean Fever and Cryopyrin Associated Periodic Syndromes
por: Gul, A, et al.
Publicado: (2015)

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
por: Rowczenio, Dorota M., et al.
Publicado: (2017)

Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome
por: Vahedi, Mahdieh, et al.
Publicado: (2021)

National CAPS (Cryopyrin-Associated Periodic Syndrome) Registry
por: Bibalo, C, et al.
Publicado: (2011)

Rilonacept in the management of cryopyrin-associated periodic syndromes (CAPS)
por: Gillespie, Justin, et al.
Publicado: (2010)

Cryopyrin-Associated Periodic Fever Syndrome and the Nervous System
por: Keddie, Stephen, et al.
Publicado: (2018)

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism
por: Mensa-Vilaro, A, et al.
Publicado: (2015)

Differences in disease activity in cryopyrin-associated periodic syndrome in mutation-positive and mutation-negative patients
por: Kostik, M, et al.
Publicado: (2015)

The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event
por: Awad, Fawaz, et al.
Publicado: (2019)

Neurology of the Cryopyrin-Associated Periodic Feversyndrome
por: Parker, T, et al.
Publicado: (2015)

Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response
por: Yu, Justin R., et al.
Publicado: (2010)

Erythema nodosum in an adolescent patient with cryopyrin‐associated periodic syndrome
por: Chan, Linda, et al.
Publicado: (2018)

Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)
por: Mamoudjy, Nafissa, et al.
Publicado: (2017)

The First Case Series of Cryopyrin-Associated Periodic Syndrome in Korea
por: Han, Jong Hee, et al.
Publicado: (2019)

Most Important Factors in Diagnosing Cryopyrin-Associated Periodic Syndrome
por: Lee, Soyoung, et al.
Publicado: (2021)

Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome.
por: Bertoni, A, et al.
Publicado: (2015)

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

The IL-1 receptor antagonist anakinra (kineret®) stabilizes the NLRP3 mutation-specific risk for hearing loss in patients with severe cryopyrin-associated periodic syndromes (CAPS)
por: Leinonen, Mika, et al.
Publicado: (2014)

Interleukin-1β inhibitors for the treatment of cryopyrin-associated periodic syndrome
por: Dhimolea, Eugen
Publicado: (2011)

Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome
por: Kawai, Mariko, et al.
Publicado: (2013)

Cryopyrin‐associated periodic syndrome with inflammatory bowel disease: A case study
por: Raymond, Karen N, et al.
Publicado: (2021)

115 Caspase-4 Plays a Role in the Activation of the Cryopyrin/NLRP3 Inflammasome
por: Cox, Ruan, et al.
Publicado: (2012)

Interleukin-1 antagonists in the treatment of autoinflammatory syndromes, including cryopyrin-associated periodic syndrome
por: Quartier, Pierre
Publicado: (2011)

In vivo regulation of interleukin 1β in patients with cryopyrin-associated periodic syndromes
por: Lachmann, Helen J., et al.
Publicado: (2009)

Evidence based recommendations for diagnosis and treatment of cryopyrin-associated periodic syndromes (CAPS)
por: Haar, Nienke Ter, et al.
Publicado: (2014)

A refractory heterogeneous Cryopyrin-Associated Periodic Syndrome (CAPS) phenotype related to V198M mutation responds to canakinumab - a case report
por: Hansmann, Sandra, et al.
Publicado: (2011)

Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS)
por: Toker, Ori, et al.
Publicado: (2010)

Anakinra and related drugs targeting interleukin-1 in the treatment of cryopyrin-associated periodic syndromes
por: Bachove, Inessa, et al.
Publicado: (2014)

Long-term safety profile of anakinra in patients with severe cryopyrin-associated periodic syndromes
por: Kullenberg, Torbjörn, et al.
Publicado: (2016)

PReS-FINAL-2234: Successful canakunimab treatment in uveitis secondary to cryopyrin-associated periodic syndrome
por: Kasapcopur, O, et al.
Publicado: (2013)

An experience of use of canakinumab IL-1 inhibitor in children with cryopyrin-associated periodic syndromes (CAPS)
por: Salugina, Svetlana O, et al.
Publicado: (2014)

Diagnosis and Management of the Cryopyrin-Associated Periodic Syndromes (CAPS): What Do We Know Today?
por: Welzel, Tatjana, et al.
Publicado: (2021)

Lessons From the Misdiagnosis of Cryopyrin-Associated Periodic Syndrome as an Infection: Importance of an Early and Precise Diagnosis
por: Li, Tao, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_d46vf8563ek6hrn1cpmhh8okiq