Cargando…
CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma
BACKGROUND: Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene. CASE PRESENTATION: We are reporting a 15-year-old male patient with complaints of chron...
Autores principales: | Salehzadeh, Farhad, Barak, Manuchehr, Hosseiniasl, Saied, Shahbazfar, Ehsan |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557019/ https://www.ncbi.nlm.nih.gov/pubmed/31217698 http://dx.doi.org/10.1177/1179547619854705 |
Ejemplares similares
-
Neonatal treatment of CINCA syndrome
por: Paccaud, Yan, et al.
Publicado: (2014) -
Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
por: Gomes, S Melo, et al.
Publicado: (2015) -
Effect of anakinra on arthropathy in CINCA/NOMID syndrome
por: Miyamae, Takako, et al.
Publicado: (2010) -
Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID patients using next-generation sequencing
por: Izawa, K, et al.
Publicado: (2011) -
Relapsing periodic arthritis, palindromic rheumatism and MEFV gene-related variants alleles in children
por: Salehzadeh, Farhad, et al.
Publicado: (2019)