Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil

BACKGROUND: PAPA syndrome (MIM #604416) is a rare monogenic autoinflammatory disease genetically transmitted in an autosomal dominant trait that results from missense mutations in the proline-serine-threonine phosphatase-interactive protein 1 (PSTPIP1) gene located on chromosome 15 and is characteri...

Descripción completa

Detalles Bibliográficos
Autores principales: Fernandes, Sérgio Júlio, Valdomir Nadaf, Maria Isabel, Monteiro, Nauro Hudson, Nadaf, Izabel Nazira, Lélis, Cleiton Ribeiro, Takano, Bianca Yumi, Gabriella de Camargo Monteiro, Bárbarah, Gabriella de Camargo Monteiro, Nyvea, Takano, Olga Akiko, Mendonça, Leonardo Oliveira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8687813/
https://www.ncbi.nlm.nih.gov/pubmed/34938582
http://dx.doi.org/10.1155/2021/6660937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8687813/
https://www.ncbi.nlm.nih.gov/pubmed/34938582
http://dx.doi.org/10.1155/2021/6660937

Ejemplares similares