Cargando…

The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients

Detalles Bibliográficos
Autores principales:	Gomes, Sonia Melo, Arostegui, Joan, Omonyinmi, Ebun, Gonzalez-Roca, Eva, Standing, Ariane, Rowczenio, Dorota, Nathanpisal, Sira, Murphy, Claire, Elephteriou, Despina, Klein, Nigel, Hawkins, Philip, Lachmann, Helen, Brogan, Paul
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184300/ http://dx.doi.org/10.1186/1546-0096-12-S1-P70

Ejemplares similares

Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
por: Omoyinmi, Ebun, et al.
Publicado: (2014)

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients
por: Rowczenio, D, 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)

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)

Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
por: Gomes, S Melo, et al.
Publicado: (2015)

First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene
por: Rowczenio, D, et al.
Publicado: (2015)

Identification of a novel monogenic autoinflammatory disease due to mutation in a mitochondrial chaperone protein in a single kindred, and cure with allogeneic haematopoietic stem cell transplantation
por: Standing, Ariane, et al.
Publicado: (2014)

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
por: Omoyinmi, Ebun, et al.
Publicado: (2017)

Somatic NLRP3 mosaicism in Muckle-Wells syndrome
por: Gonzalez-Roca, E, et al.
Publicado: (2015)

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
por: Omoyinmi, Ebun, et al.
Publicado: (2021)

Gene hunting in autoinflammation
por: Standing, Ariane, et al.
Publicado: (2013)

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

Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome
por: Elmi, Abdulkadir A., et al.
Publicado: (2019)

Autoinflammation due to homozygous S208 MEFV mutation
por: Hong, Ying, et al.
Publicado: (2019)

TRAP1 chaperone protein mutations and autoinflammation
por: Standing, Ariane SI, et al.
Publicado: (2019)

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

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

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I
por: Nanthapisal, Sira, et al.
Publicado: (2018)

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

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

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

Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation
por: SHIRAISHI, Ken, et al.
Publicado: (2022)

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

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)

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)

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

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1
por: Standing, Ariane S.I., et al.
Publicado: (2017)

A decade of anti-IL-1 therapy in CAPS - a spectrum of efficacy in this spectrum of diseases
por: Lane, T, et al.
Publicado: (2015)

Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID patients using next-generation sequencing
por: Izawa, K, et al.
Publicado: (2011)

Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature
por: Rowczenio, Dorota M, et al.
Publicado: (2013)

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency
por: Shinar, Y, et al.
Publicado: (2015)

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
por: Hong, Ying, et al.
Publicado: (2019)

Rapid and Sustained Long‐Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin‐Associated Periodic Syndrome Ages Five Years and Younger
por: Brogan, Paul A., et al.
Publicado: (2019)

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center
por: Peet, Claire J., et al.
Publicado: (2022)

A Retrospective Patient Chart Review and Survey in Patients with Cryopyrin-associated Periodic Syndromes Treated with Anakinra
por: Lachmann, Helen J., et al.
Publicado: (2013)

Efficacy and safety of anakinra for undifferentiated autoinflammatory diseases in children: a retrospective case review
por: Garg, Suchika, et al.
Publicado: (2019)

PW03-020 – A decade of ANTI-IL-1 therpay for CAPS in the UK
por: Lane, T, et al.
Publicado: (2013)

Glyburide inhibits the Cryopyrin/Nalp3 inflammasome
por: Lamkanfi, Mohamed, et al.
Publicado: (2009)

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)

Cannot write session to /tmp/vufind_sessions/sess_t3lbr5rh4qpcoe04ola3gntm7o